The nuchal translucency and the fetal heart: a literature review

In this overview the current knowledge of the relationship between an increased nuchal translucency (NT) measurement and fetal heart structure and function in chromosomally normal fetuses is reviewed. Relevant pathophysiological theories behind the increased NT are discussed. Fetuses with an increased NT have an increased risk for congenital heart disease (CHD) with no particular bias for one form of CHD over another. This risk increases with increasing NT measurement. Although the NT measurement is only a modestly effective screening tool for all CHD when used alone, it may indeed be effective in identifying specific CHD “likely to benefit” from prenatal diagnosis. The combination of an increased NT, tricuspid regurgitation and an abnormal ductus venosus (DV) Doppler flow profile, is a strong marker for CHD. A fetal echocardiogram should be performed at 20 weeks' gestation in fetuses with an NT ≥ 95th percentile but < 99th percentile. When the NT measurement is ≥ 99th percentile, or when tricuspid regurgitation and/or an abnormal DV flow pattern is found along with the increased NT, an earlier echocardiogram is indicated, followed by a repeat scan at around 20 weeks' gestation. The resultant increased demand for early fetal echocardiography and sonographers with this special expertise needs to be planned and provided for. Copyright © 2009 John Wiley & Sons, Ltd.     

Prenatal sonographic signs of possible fetal genital anomalies

The sonographic markers of female and male external genitalia have been documented in early and late gestation. The aim of the present study was to report our experience of possible sonographic markers of fetal genital anomalies. Sonography was performed with a vaginal probe in early gestation and an abdominal sector scanner in advanced gestation. The following genital anomalies were observed: hypospadias, epispadias, ambiguous genitalia, and testicular feminization or Smith-Lemli-Opitz syndrome. It is therefore concluded that prenatal diagnosis of some genital anomalies is now possible.     

The development of the fetal eye: In utero ultrasonographic measurements of the vitreous and lens

Our objective was to establish nomograms for fetal eye measurements from 12 weeks' gestation by using transvaginal and transabdominal high-resolution ultrasound techniques. A prospective cross-sectional study was performed on 450 normal singleton pregnancies between 12 and 37 weeks' gestation. Vitreous and lens circumferences were measured by transvaginal ultrasonography until 17 weeks, and by abdominal ultrasound between 18 and 37 weeks' gestation. Regression analyses were used to create nomograms, and several transformations were done to obtain linearity. Eye measurements of 12 fetuses at risk for ocular disturbances were plotted on the constructed nomograms. Linear relationships were fitted between vitreous (r²=0.79) and lens (r²=0.88) circumferences and gestational age. In addition, there was a significant correlation between these measurements and the biparietal diameter. Data of the fetuses at risk showed that disturbances in ocular growth were associated mainly with abnormal cerebral development. These normative data may be helpful in the prenatal diagnosis of suspected congenital syndromes that include, among their manifestations, ocular growth disturbances such as microphthalmos and anophthalmos.     

In utero therapy for fetal thoracic abnormalities

Fetal thoracic lung anomalies are rare. The specific diagnosis can be made by utilizing ultrasound, magnetic resonance imaging (MRI), and Doppler studies. Perinatal surveillance is required for large lesions and mediastinal shift regardless of the pathological diagnosis. These can cause physiological changes in the cardiovascular system with resulting hydrops. In utero therapies are variable but with no large randomized trials to compare risks and benefits. In most cases of fetal lung lesions, continued observation with postnatal therapy is the outcome. When fetal hydrops is present or impending, in utero fetal therapy is required to try to reverse that pathological course associated with fetal or neonatal death. Maternal morbidity is increased with the development of MIRROR syndrome following the presence of long-standing fetal hydrops and possible surgical procedures. Copyright © 2008 John Wiley & Sons, Ltd.     

The causes and natural history of fetal ascites

The purpose of this study was to examine the natural history and differential diagnosis of ultrasound-detected, isolated fetal ascites. Retrospective review of our patient data base, from 1989 to 1993, revealed 18 patients with fetal ascites diagnosed sonographically. Fetuses presenting with generalized hydrops were excluded. One of the 18 fetuses with ascites had a chromosomal abnormality (trisomy 21), four fetuses had intrauterine infections, seven had gastrointestinal processes, two had genitourinary tract abnormalities, and four were labelled as ‘idiopathic’ (all four resulting in normal neonates). Seventeen of 18 fetuses survived; there was one fetal demise secondary to active syphilis. One fetus with parvovirus infection required intrauterine transfusion and did well. Two infants are developmentally retarded, including one with trisomy 21 and one with microcephaly secondary to cytomegalovirus infection. Fourteen of 18 fetuses had documented in-utero resolution of the ascites. Eleven of the 18 were associated with polyhydramnios sometime during fetal life. None of the fetuses developed hydrops. In conclusion, fetal ascites can result from many different aetiologies, including gastrointestinal and genitourinary anomalies. Chromosomal abnormalities and viral aetiologies must also be considered. Fetuses who have isolated ascites can have a good outcome with resolution of the ascites antenatally.     

Shortened fetal long bones: a possible in utero manifestation of placental function

Shortened fetal long bones (SFLB) are usually indicative of a skeletal dysplasia. Our aim in this observational retrospective study was to describe a new association between SFLB, small for gestational age (SGA) fetuses and placental abnormalities, and to suggest an aetiologic explanation. During the last decade we have evaluated nine cases in which SFLB (more than 2SD below the mean) was associated with SGA, abnormal maternal serum placental hormones and abnormal placental sonography. Six cases had significantly increased second trimester maternal serum βhCG and four developed toxaemia of pregnancy or had chronic hypertension. On histology, mature placentas with vascular abnormalities, including chorangiosis, large infarcts and slightly increased syncytial knots were noted. The combination of SFLB, SGA fetuses and placental abnormalities (sonographic, as well as histological) suggested a possible common pathway in the aetiology of this association. Copyright © 2002 John Wiley & Sons, Ltd.     

Counselling following a diagnosis of congenital heart disease

Counselling the parents following a diagnosis of fetal congenital heart disease (CHD) is as important a task for the fetal cardiologist, as the skill involved in achieving an accurate diagnosis. The counsellor will base prognosis not only on the diagnosis itself but also on the security of diagnosis, the stage in gestation and potential for change, the association with extracardiac malformations and the known results of treatment. Depending on the gestational age and legal situation the counsellor is operating in, termination of pregnancy may be one of the options to consider and one that should always be raised in discussion. Thus, the parents may be in the position of making a crucial decision concerning the management of the pregnancy on the basis of the information received, so it is vital that the counsellor is truly able to communicate with them, whatever be their level of understanding. Copyright © 2004 John Wiley & Sons, Ltd.     

Sonography of fetal cerebrospinal anomalies

Congenital anomalies of the central nervous system (CNS) are among the most frequent malformations. Current ultrasound equipment can give a precise diagnosis of many of these lesions from early gestation. High-resolution transvaginal probes play a major role both in allowing an early diagnosis and for better defining subtle details of both normal and abnormal cerebral anatomy. The diagnostic accuracy of prenatal ultrasound is, however, heavily dependent upon the expertise of the sonologist, the type of equipment employed, and the time dedicated to the scan. Fetal sonography is effective in identifying neural tube defects, although alpha-fetoprotein screening seems to give a greater sensitivity. The accuracy of ultrasound in the identification of CNS malformations other than neural tube defects remains unclear because of the ascertainment biases of the few large prospective studies that have been conducted to date. Copyright © 2002 John Wiley & Sons, Ltd.