TRAP sequence can be diagnosed using obstetric ultrasound. Doppler interrogation will confirm that blood flow in the acardiac twin is in the reverse direction, entering via the umbilical cord artery and exiting through the vein.

The following tests have been promoted as supposedly diagnosing placental insufficiency, but all have been unsuccessful at predicting stillbirth due to placental insufficiency:

- Placental grading

- Amniotic fluid index

- Fetal biophysical profile test scoring

- Doppler velocimetry

- Routine ultrasound scanning

- Detection and management of maternal diabetes mellitus

- Antenatal fetal heart rate monitoring using cardiotocography

- Vibroacoustic stimulation, fetal movement counting

- Home vs. hospital-based bed rest and monitoring in high-risk pregnancy

- In-hospital fetal surveillance unit

- Use of the partograph during labor

- Cardiotocography during labor with or without pulse oximetry

Occasionally, there is only the one single umbilical artery (SUA) present in the umbilical cord. Approximately this affects between 1 in 100 and 1 in 500 pregnancies, making it the most common umbilical abnormality. It is more common in multiple births. Its cause is not known.

Most cords have one vein and two arteries. The vein carries oxygenated blood from the placenta to the baby and the arteries carry deoxygenated blood from the baby to the placenta. In approximately 1% of pregnancies there are only two vessels —usually a single vein and single artery. In about 75% of those cases, the baby is entirely normal and healthy and the missing artery isn't missed at all. One artery can support a pregnancy and does not necessarily indicate problems. For the other 25%, a 2-vessel cord is a sign that the baby has other abnormalities—sometimes life-threatening and sometimes not. SUA does increase the risk of the baby having cardiac, skeletal, intestinal or renal problems. Babies with SUA may have a higher likelihood of having other congenital abnormalities, especially of the heart. However, additional testing (high level ultrasound scans) can rule out many of these abnormalities prior to birth and alleviate parental anxiety. Echocardiograms of the fetus may be advised to ensure the heart is functioning properly. Genetic counseling may be useful, too, especially when weighing the pros and cons of more invasive procedures such as chorionic villus sampling and amniocentesis.

Although the presence of an SUA is a risk factor for additional complications, most fetuses with the condition will not experience other problems, either in utero or after birth. Especially encouraging are cases in which no other soft markers for congenital abnormalities are visible via ultrasound. Prior to ultrasound technology, the only method for determining the presence of a SUA was at birth, following an examination of the placenta. Given that the vast majority of expectant mothers do not receive the kind of advanced ultrasound scanning required to confirm SUA in utero, most cases may never be detected antenatally even today.

Doctors and midwives often suggest parents take the added precaution of having regular growth scans near term to rule out intrauterine growth restriction, which can happen on occasion and warrant intervention. Yet the majority of growth restricted infants with the abnormality also have other defects. Finally, neonates with the finding may also have a higher occurrence of renal problems, therefore close examination of the infant may be warranted shortly after birth. Among SUA infants, there is a slightly elevated risk for post-natal urinary infections.

It may be associated with Edwards syndrome.

If left untreated, the pump twin will die in 50–75% of cases.

After diagnosis, ultrasound and amniocentesis are used to rule out genetic abnormalities in the pump twin. A procedure may then be performed which will stop the abnormal blood flow. The acardiac twin may be selectively removed. The umbilical cord of the acardiac twin may be surgically cut, separating it from the pump twin, a procedure called fetoscopic cord occlusion. Or a radio-frequency ablation needle may be used to coagulate the blood in the acardiac twin's umbilical cord. This last procedure is the least invasive. These procedures greatly increase the survival chances of the pump twin, to about 80%.

The pump twin will be monitored for signs of heart failure with echocardiograms. If the pump twin's condition deteriorates, the obstetrician may recommend early delivery. Otherwise, the pregnancy continues normally. Vaginal birth is possible unless the fetus is in distress, although it is recommended that the delivery take place at a hospital with NICU capabilities.

This is equivalent of zero intervention. It has been associated with almost 100% mortality rate of one or all fetuses. Exceptions to this include patients that are still in Stage 1 TTTS and are past 22 weeks gestation.

A staging system proposed by fetal surgeon Dr. Ruben Quintero is commonly used to classify the severity of TTTS.

Stage I: A small amount of amniotic fluid (oligohydramnios) is found around the donor twin and a large amount of amniotic fluid (polyhydramnios) is found around the recipient twin.

Stage II: In addition to the description above, the ultrasound is not able to identify the bladder in the donor twin.

Stage III: In addition to the characteristics of Stages I and II, there is abnormal blood flow in the umbilical cords of the twins.

Stage IV: In addition to all of the above findings, the recipient twin has swelling under the skin and appears to be experiencing heart failure (fetal hydrops).

Stage V: In addition to all of the above findings, one of the twins has died. This can happen to either twin. The risk to either the donor or the recipient is roughly equal & is quite high in Stage II or higher TTTS.

The Quintero staging does not provide information about prognosis, and other staging systems have been proposed.

An omphalocele is often detected through AFP screening or a detailed fetal ultrasound. Genetic counseling and genetic testing such as amniocentesis are usually offered during the pregnancy.

It is recommended that women with vasa previa should deliver through elective cesarean prior to rupture of the membranes. Given the timing of membrane rupture is difficult to predict, elective cesarean delivery at 35–36 weeks is recommended. This gestational age gives a reasonable balance between the risk of death and that of prematurity. Several authorities have recommended hospital admission about 32 weeks. This is to give the patient proximity to the operating room for emergency delivery should the membranes rupture. Because these patients are at risk for preterm delivery, it is recommended that steroids should be given to promote fetal lung maturation. When bleeding occurs, the patient goes into labor, or if the membranes rupture, immediate treatment with an emergency caesarean delivery is usually indicated.

The differentiating presentations are suggestive of FMD being a unique syndrome in respect to the pediatric population. Experienced FMD clinicians warn against relying in the “string of beads” angiography for a diagnosis. In fact, it is suggested that FMD may be both under and over-diagnosed in children with stroke.

Retrospective data of over 182,000 births, with the statistical power to determine even mild associations, suggest that a single or multiple nuchal cords at the time of delivery is not associated with adverse perinatal outcomes, is associated with higher birthweights and fewer caesarean sections in births. Although some studies have found that a tight nuchal cord is associated with short term morbidity, it is unclear whether such outcomes are actually a result of the presence of the nuchal cord itself, or as a result of clamping and cutting the cord

Management of a presenting nuchal cord should be tailored to prevent umbilical cord compression whenever possible. Techniques to preserve an intact nuchal cord depend on how tightly the cord is wrapped around the infant’s neck. If the cord is loose, it can easily be slipped over the infant’s head. The infant can be delivered normally and placed on maternal abdomen as desired. If the cord is too tight to go over the infant’s head, the provider may be able to slip it over the infant’s shoulders and deliver the body through the cord. The cord can then be unwrapped from around the baby after birth. Finally, if the cord is too tight to slip back over the shoulders, one may use the somersault maneuver to allow the body to be delivered. The birth attendant may also choose to clamp and cut the umbilical cord to allow for vaginal delivery if other methods of nuchal cord management are not feasible.

It is the lack of specific symptoms and its potential to appear anywhere that makes FMD a challenge to detect early on. The most accurate diagnosis comes from combining clinical presentation and angiographic imaging. According to the Michigan Outcomes Research and Reporting Program (MCORRP, 2013) the length of time from a patient’s first signs or symptoms to diagnosis is commonly 5 years.

FMD is currently diagnosed through the use of both invasive and non-invasive tests. Non-invasive testing includes duplex ultrasonography, magnetic resonance angiography (MRA), and computed tomographic angiography (CTA). Invasive testing through angiography is the gold standard. However, due to the higher risk of complications this is typically not done early on. Occasionally, FMD is diagnosed asymptomatically after an unrelated x-ray presents the classic ‘string of beads’ appearance of the arteries, or when a practitioner investigates an unexpected bruit found during an exam. When a diagnosis of FMD is considered for a patient thorough medical history, family history as well as vascular examination should be completed.

A definitive diagnosis of FMD can only be made with imaging studies. Catheter-based angiography (with contrast) has proven to be the most accurate imaging technique: this test involves a catheter is inserted into a large artery and advanced until it reaches the vessel of question. The catheter allows practitioners to view and measure the pressure of the artery aiding in the categorization and severity of the FMD diseased artery. According to Olin, “catheter-based angiography is the only imaging modality that can accurately identify the changes of FMD, aneurysm formation, and dissection in the branch vessels.” Practitioners believe it is important to utilize IVUS imaging because stenosis can sometimes only be detected through the methods of pressure gradient or IVUS imaging. In addition, computed tomography angiography and magnetic resonance angiography are commonly used to evaluate arteries in the brain. Doppler ultrasound may be used in both the diagnosis and follow-up of FMD.

In 1962, J. Selwyn Crawford MD from the British Research Council defined a nuchal cord as one that is wrapped 360 degrees around the fetal neck. Dr. Crawford commented "It is all the more remarkable, therefore, that little work has been done ... to analyze its effects during labor and delivery". To date, there is no prospective case control double-blind study looking at nuchal cords and observational studies vary in opinion as to the degree of poor outcomes. Also not included in these studies is which umbilical cord form (of the 8 different possible structures) was considered a nuchal cord.

Ultrasound diagnosis of a cord around the neck was first described in 1982. “Coils occur in about 25% of cases and ordinarily do no harm, but occasionally they may be so tight that constriction of the umbilical vessels and consequent hypoxia result.” Williams Obstetrics 16th Edition, has only one single sentence in the entire textbook regarding cords around the neck. By contrast, the First Edition of the Encyclopædia Britannica from 1770 had 20 pages of information about Umbilical Cord Pathology with drawings of Umbilical Cord Entanglement. The Royal College of Obstetricians and Gynaecologists has these images on its brochure. There are currently three recent texts on ultrasonography which demonstrate the ability of ultrasound to identify umbilical cord issues with reliability as of 2009.

A study published in 2004 was done to establish the sensitivity of ultrasound in the diagnosis of a nuchal cord. Each of 289 women, induced the same day, underwent a transabdominal ultrasound scan with an Aloka 1700 ultrasound machine with a 3.5 MHz abdominal probe, using gray-scale and color Doppler imaging immediately prior to induction of labor. Presence of the cord was sought in the transverse and sagittal plane of the neck. A nuchal cord was diagnosed if the cord was visualized lying around at least 3 of the 4 sides of the neck. A cord was actually present at delivery in 52 of the 289 women. Only 18 of the 52 cords or 35% of the nuchal cords were detected on ultrasound done immediately before delivery, and 65% of nuchal cords were not detected. Of the 237 cases where there was no cord at delivery, ultrasound had false positive results, i.e. diagnosed a cord in 44 of the 237 cases (19%) in which there was no cord present at all. In this study, ultrasound was only 35% accurate at finding a single loop, and only 60% accurate at detecting a nuchal cord wrapped multiple times around the neck.

In no study was it possible by ultrasound to distinguish between a loose or a tight cord, although at least 3 attempted to do so. Peregrine concludes that ultrasound diagnosis of nuchal cords will only be useful if doctors are able to do so reliably and predict which of those fetuses are likely to have a problem., However, perinatologists routinely look for umbilical cord issues in monoamniotic twins. Studies have shown an improvement in outcomes where cord entanglement was prenatally identified in these cases. Ultrasound measurement of the velocity of flow in the cord may be useful in the management of twins and chronically growth-retarded fetuses. Of course this depends on the training of the sonographer. To date there are no ultrasound courses which teach the identification of nuchal cord to physicians or technicians. A recent review by Wilson of the American Academy of Ultrasonography Technicians recommends the documentation of umbilical cord issues.

Clapp, et al, attempted to find out at what rate nuchal cords come and go during pregnancy. He recruited 84 healthy, non-smoking, non-substance abusing women carrying a single fetus, with certain dates before the 20th week of gestation. They all agreed to 4 extensive ultrasounds at 24-26, 30-32, 36–38 weeks gestation and during labor and delivery. They evaluated fetal biometry, fetal tone, fetal motion including breathing movements, amniotic fluid volume, fetal flow redistribution, velocity flow profiles from the umbilical artery at the body wall and placental insertion and at the origin of fetal middle cerebral artery. Finally, color flow Doppler imaging was used to determine whether a nuchal cord was present. Clapp reports that in 60%, or 50 of the 84 fetuses studied, a nuchal cord was seen on ultrasound at one of the 4 evaluations. He found that the presence of a nuchal cord linearly increases as the pregnancy continues. Larson, et al, found this to be true. She found, of the 13,895 singleton deliveries, a nuchal cord linearly increased every week of gestation, appearing in 6% at 20 weeks to 29.0% at 42 weeks gestation.

d-TGA can sometimes be diagnosed in utero with an ultrasound after 18 weeks gestation. However, if it is not diagnosed in utero, cyanosis of the newborn (blue baby) should immediately indicate that there is a problem with the cardiovascular system. Normally, the lungs are examined first, then the heart is examined if there are no apparent problems with the lungs. These examinations are typically performed using ultrasound, known as an echocardiogram when performed on the heart. Chest x-rays and electrocardiograms (EKG) may also be used in reaching or confirming a diagnosis; however, an x-ray may appear normal immediately following birth. If d-TGA is accompanied by both a VSD and pulmonary stenosis, a systolic murmur will be present.

On the rare occasion (when there is a large VSD with no significant left ventricular outflow tract obstruction), initial symptoms may go unnoticed, resulting in the infant being discharged without treatment in the event of a hospital or birthing center birth, or a delay in bringing the infant for diagnosis in the event of a home birth. On these occasions, a layperson is likely not to recognize symptoms until the infant is experiencing moderate to serious congestive heart failure (CHF) as a result of the heart working harder in a attempt to increase oxygen flow to the body; this overworking of the heart muscle eventually leads to hypertrophy and may result in cardiac arrest if left untreated.

Umbilical cord prolapse should always be considered a possibility when there is a sudden decrease in fetal heart rate or variable decelerations, particularly after the rupture of membranes. With overt prolapses, the diagnosis can be confirmed if the cord can be palpated on vaginal examination. Without overt prolapse, the diagnosis can only be confirmed after a cesarean section, though even then it will not always be evident at time of procedure.

With simple d-TGA, if the foramen ovale and ductus arteriosus are allowed to close naturally, the newborn will likely not survive long enough to receive corrective surgery. With complex d-TGA, the infant will fail to thrive and is unlikely to survive longer than a year if corrective surgery is not performed. In most cases, the patient's condition will deteriorate to the point of inoperability if the defect is not corrected in the first year.

While the foramen ovale and ductus arteriosus are open after birth, some mixing of red and blue blood occurs allowing a small amount of oxygen to be delivered to the body; if ASD, VSD, PFO, and/or PDA are present, this will allow a higher amount of the red and blue blood to be mixed, therefore delivering more oxygen to the body, but can complicate and lengthen the corrective surgery and/or be symptomatic.

Modern repair procedures within the ideal timeframe and without additional complications have a very high success rate.

Smith (2015) conducted a study that looked into specific biological markers that correlate to Moyamoya disease. Some of the categories of these biomarkers include phenotypes - conditions commonly related to Moyamoya, radiographical markers for the diagnosis of Moyamoya, and proteins as well as cellular changes that occur in cases of Moyamoya.

Similar to Moyamoya Disease, there are conditions that are closely associated with Moyamoya Syndrome. Some of the more common medical conditions that are closely associated with Moyamoya Syndrome include trisomy 21 (Down's Syndrome), sickle cell disease, and neurofibromatosis type 1. There is also evidence that identifies hyperthyroidism and congenital dwarfing syndromes as two of the more loosely associated syndromes that correlate with the possibility of being diagnosed with Moyamoya Disease later in life.

There is also research that has shown that certain radiographic biomarkers that lead to the diagnosis of Moyamoya Disease have been identified. The specific radiographic markers are now considered an acceptable key component to Moyamoya Disease and have been added to the INternational Classification of Diseases (ICD). These biomarkers of Moyamoya are "stenosis of the distal ICA's up to and including the bifurcation, along with segments of the proximal ACA and MCA...dilated basal collateral vessels must be present" Some other common findings that have not been added to the classification index of those with Moyamoya Disease which are found using radiography involve very distinct changes in the vessels of the brain. These changes include newly formed vessels made to compensate for another change noted, ischemia and cerebrovascular reserve, both found on MRI. Functional changes include evidence of ischemia in vessels of the brain (ICA, ACA, MCA, specifically). It is important to also note that the radiographic biomarkers, in order to be classified as Moyamoya Disease, all findings must be bilateral. If this is not the case and the findings are unilateral, it is diagnosed as Moyamoya Syndrome.

There are also several protein biomarkers that have been linked to the Moyamoya Disease diagnosis. Although the sample size of the studies performed are small due to the rarity of the disease, the findings are indicative of a correlation between the disease and several specific protein biomarkers. Other studies have confirmed the correlation of Moyamoya and adhesion molecule 1 (ICAM-1) being increased as compared to normal vascular function counterparts Furthermore, it has been concluded that the localization of inflammatory cells suggests that the inflammation stimulus iteself may be responsible for the proliferation and occlusion in the ICA, ACA, and MCA found in those with Moyamoya Disease.

The primary concern with umbilical cord prolapse is inadequate blood supply, and thus oxygen, to the fetus if the cord becomes compressed. The cord can become compressed either due to mechanical pressure (usually from the presenting fetal part) or from sudden contraction of the vessels due to decreased temperatures in the vagina in comparison to the uterus. This can lead to death of the fetus or other complications.

Historically, the rate of fetal death in the setting of cord prolapse has been as high 40%. However, these estimates occurred in the context of home or births outside of the hospital. When considering cord prolapses that have occurred in inpatient labor and delivery settings, the rate drops to as low as 0-3%, though the mortality rate remains higher than for fetuses without cord prolapse. The reduction in mortality for hospital births is likely due to the ready availability of immediate cesarean section.

Many other fetal outcomes have been studied, including Apgar score (a quick assessment of a newborn's health status) at 5 minutes and length of hospitalization after delivery. While both measures are worse for newborns delivered after cord prolapse, it is unclear what effect this has in the long-term. Relatively large studies that have tried to quantify long-term effects of cord prolapse on children found that less than 1% (1 in 120 studied) suffered a major neurologic handicap, and less than 1% (110 in 16,675) had diagnosed cerebral palsy.

The most accurate method of diagnosis is prenatal screening through real-time fetal images. However, since maternal body habitus leads to diagnostic difficulties using this method, MRI and sonography are the most commonly used technique since there is no exposure to ionizing radiation. At the beginning of the second trimester, the central nervous system (CNS) and anatomic structures of the fetus can be clearly visualized and the characteristic malformations of iniencephaly, such as a shortened trunk, marked lordosis in the cervicothoracic vertebrae, absence or partial absence of the occipital squama, abnoramal fusion of vertebrae, closed vertebral arches, formation of an encephalocele (for iniencephaly apertus), and dorsiflexion of the head in respect to the spine, can be precisely diagnosed as well as the severity and location established. Once established, further decisions can be made with regard to terminating the pregnancy or providing a plan of adequate postnatal care.

If left untreated, gastroschisis is fatal to the infant; however, in adequate settings the survival rate for treated infants is 90%.

Most risks of gastroschisis are related to decreased bowel function. Sometimes blood flow to the exposed organs is impaired or there may be less than the normal amount of intestine. This may put infants at risk for other dangerous conditions such as necrotizing enterocolitis. Also, because their intestines are exposed, infants with gastroschisis are at increased risk for infection, and must be closely monitored.

The diagnosis of moyamoya is suggested by CT, MRI, or angiogram results. Contrast-enhanced T1-weighted images are better than FLAIR images for depicting the leptomeningeal ivy sign in moyamoya disease. MRI and MRA should be performed for the diagnosis and follow-up of moyamoya disease. Diffusion-weighted imaging can also be used for following the clinical course of children with moyamoya disease, in whom new focal deficits are highly suspicious of new infarcts.

Proliferation of smooth muscle cells in the walls of the Moyamoya affected arteries has been found to be representative of the disease. A study of six autopsies of six patients who died from Moyamoya disease lead to the finding that there is evidence that supports the theory that there is a thickening, or proliferation, of the innermost layer of the vessels affected by Moyamoya. These vessels are the ACA (anterior cerebral artery), MCA (middle cerebral artery), and ICA (internal carotid artery). The occlusion of the ICA results in concomitant diminution of the "puff-of-smoke" collaterals, as they are supplied by the ICA.

Often nuclear medicine studies such as SPECT (single photon emission computerized tomography) are used to demonstrate the decreased blood and oxygen supply to areas of the brain involved with moyamoya disease. Conventional angiography provided the conclusive diagnosis of moyamoya disease in most cases and should be performed before any surgical considerations.

Dr. Darren B. Orbach, MD, PhD explains how the disease progresses as well as the role angiography plays in detecting the progression of Moyamoya in a short video

In twin pregnancies, it is very common for one or both babies to be in the breech position. Most often twin babies do not have the chance to turn around because they are born prematurely. If both babies are in the breech position and the mother has gone into labour early, a cesarean section may be the best option. About 30-40% of twin pregnancies result in only one baby being in the breech position. If this is the case, the babies can be born vaginally. After the first baby who is not in the breech position is delivered, the baby who is presented in the breech position may turn itself around, if this does not happen another procedure may performed called the breech extraction. The breech extraction is the procedure that involves the obstetrician grabbing the second twin's feet and pulling him/her into the birth canal. This will help with delivering the second twin vaginally. However, if the second twin is larger than the first, complications with delivering the second twin vaginally may arise and a cesarean section should be performed. At times, the first twin (the twin closest to the birth canal) can be in the breech position with the second twin being in the cephalic position (vertical). When this occurs, risks of complications are higher than normal. In particular, a serious complication known as Locked twins. This is when both babies interlock their chins during labour. When this happens a cesarean section should be performed immediately.

When a baby is born bottom first there is more risk that the birth will not be straight forward and that the baby could be harmed. For example, when the baby's head passes through the mother’s pelvis the umbilical cord can be compressed which prevents delivery of oxygenated blood to the baby. Due to this and other risks, babies in breech position are usually born by a planned caesarean section in developed countries.

Caesarean section reduces the risk of harm or death for the baby but does increase risk of harm to the mother compared with a vaginal delivery. It is best if the baby is in a head down position so that they can be born vaginally with less risk of harm to both mother and baby. The next section is looking at External cephalic version or ECV which is a method that can help the baby turn from a breech position to a head down position.

Vaginal birth of a breech baby has its risks but caesarean sections are not always available or possible, a mother might arrive in hospital at a late stage of her labour or may choose not to have a caesarean section. In these cases, it is important that the clinical skills needed to deliver breech babies are not lost so that mothers and babies are as safe as possible. Compared with developed countries, planned caesarean sections have not produced as good results in developing countries - it is suggested that this is due to more breech vaginal deliveries being performed by experienced, skilled practitioners in these settings.

Treatment is with neonatal surgical repair, with the objective of restoring a normal pattern of blood flow. The surgery is open heart, and the patient will be placed on cardiopulmonary bypass to allow the surgeon to work on a still heart. The heart is opened and the ventricular septal defect is closed with a patch. The pulmonary arteries are then detached from the common artery (truncus arteriosus) and connected to the right ventricle using a tube (a conduit or tunnel). The common artery, now separated from the pulmonary circulation, functions as the aorta with the truncal valve operating as the aortic valve. Most babies survive this surgical repair, but may require further surgery as they grow up. For example, the conduit does not grow with the child and may need to be replaced as the child grows. Furthermore, the truncal valve is often abnormal and may require future surgery to improve its function.

There have been cases where the condition has been diagnosed at birth and surgical intervention is an option. A number of these cases have survived well into adulthood.

In the developed world, around 90% of cases are identified during normal ultrasound screens, usually in the second trimester.

Distinguished from other ventral body wall defects such as omphalocele, there is no overlying sac or peritoneum, and the defect is usually much smaller in gastroschisis.

Vasa previa is seen more commonly with velamentous insertion of the umbilical cord, accessory placental lobes (succenturiate or bilobate placenta), multiple gestation, IVF pregnancy. In IVF pregnancies incidences as high as one in 300 have been reported. The reasons for this association are not clear, but disturbed orientation of the blastocyst at implantation, vanishing embryos and the increased frequency of placental morphological variations in in vitro fertilisation pregnancies have all been postulated.