Retrospective analysis of fetal vertebral defects: Associated anomalies, etiologies, and outcome.

Our objectives were to describe fetal cases of vertebral defects (VD), assess the diagnostic yield of fetal chromosomal analysis for VD and determine which investigations should be performed when evaluating fetal VD. We performed a retrospective chart review for fetuses with VD seen between 2006 and 2015. Cases were identified from CHU Sainte-Justine's prenatal clinic visits, postmortem fetal skeletal surveys, and medical records. Cases with neural tube defects were excluded. Sixty-six fetuses with VD were identified at a mean gestational age of 20 weeks. Forty-seven (71.2%) had associated antenatal anomalies, most commonly genitourinary, skeletal/limb, and cardiac anomalies. Thirteen mothers (19.7%) had pregestational diabetes (95% CI [10.1%-29.3%]). Fifty-three cases had chromosomal analysis. Three had abnormal results (5.6%): trisomy 13, trisomy 22, and 9q33.1q34.11 deletion. Thirty-four (51.5%) pregnancies were terminated, one led to intrauterine fetal demise and 31 (46.9%) continued to term. Of 27 children who survived the neonatal period, 21 had congenital scoliosis and 3 had spondylocostal dysostosis. Seven had developmental delay. In conclusion, prenatal evaluation of fetuses with VD should include detailed morphological assessment (including fetal echocardiogram), maternal diabetes screening, and chromosomal microarray if non-isolated. Our findings provide guidance about management and counseling after a diagnosis of fetal VD.

Significance of lung anomalies in fetuses affected by tetralogy of Fallot with absent pulmonary valve syndrome.

OBJECTIVES: Tetralogy of Fallot with absent pulmonary valve syndrome is a rare form of tetralogy of Fallot with dilatation of large pulmonary arteries. Prognosis is related to the severity of the cardiac malformation and to bronchial tree compression by dilated pulmonary arteries. This study analyses the prenatal echographic lung appearance in fetuses with tetralogy of Fallot with absent pulmonary valve and discusses its significance. METHODS: We carried out a retrospective review of fetal and postnatal files of nine fetuses diagnosed with tetralogy of Fallot with absent pulmonary valve syndrome in our institution. Correlations of prenatal ultrasound and cardiac imaging findings were obtained with outcome. RESULTS: Abnormal heterogeneous fetal lung echogenicity was detected in eight cases out of nine, always associated with significant lobar arterial dilatation. This aspect was well correlated with postnatal imaging and outcome in the four neonatal cases. The only fetus with normal lung echogenicity also had lower degree of pulmonary artery dilatation in the series. CONCLUSIONS: This study demonstrates that a heterogeneous ultrasound appearance of the fetal lungs can be detected in utero in the most severe cases. This aspect suggests an already significant compression of the fetal bronchial tree by the dilated arteries that may have prognostic implications.

Predicting Perinatal Outcome from Prenatal Ultrasound Characteristics in Pregnancies Complicated by Gastroschisis.

INTRODUCTION: The objective of the study was to establish the predictive value of prenatal ultrasound markers for complex gastroschisis (GS) in the first 10 days of life. MATERIAL AND METHODS: In this retrospective cohort study over 11 years (2000-2011) of 117 GS cases, the following prenatal ultrasound signs were analyzed at the last second- and third-trimester ultrasounds: intrauterine growth restriction, intra-abdominal bowel dilatation (IABD) adjusted for gestational age, extra-abdominal bowel dilatation (EABD) ≥25 mm, stomach dilatation, stomach herniation, perturbed mesenteric circulation, absence of bowel lumen and echogenic dilated bowel loops (EDBL). RESULTS: Among 114 live births, 16 newborns had complex GS (14.0%). Death was seen in 16 cases (13.7%): 3 intrauterine fetal deaths, 9 complex GS and 4 simple GS. Second-trimester markers had limited predictive value. Third-trimester IABD, EABD, EDBL, absence of intestinal lumen and perturbed mesenteric circulation were statistically associated with complex GS and death. IABD was able to predict complex GS with a sensitivity of 50%, a specificity of 91%, a positive predictive value of 47% and a negative predictive value of 92%. DISCUSSION: Third-trimester IABD adjusted for gestational age appears to be the prenatal ultrasound marker most strongly associated with adverse outcome in GS.

Prenatal ultrasound screening of congenital heart disease in the general population: general concepts, guidelines, differential diagnoses.

Congenital heart diseases (CHDs) carry a high prevalence rate in the general population (0.8%-1%). Most fetal CHDs occur in patients without any risk factors. The prenatal recognition of CHD has major impacts on the pregnancy and its outcome. The aforementioned data justify prenatal ultrasound (US) screening of CHD in the general low-risk population. As demonstrated in the literature, the application of an extended basic US cardiac examination improves the detection of CHD, in particular the conotruncal anomalies. The stepwise method suggested for fetal heart US screening during the mid-second trimester sonogram is based on 4 routine axial views of heart and great vessels: (1) a transverse view of the superior abdomen, (2) a 4-chamber view, (3) a 3-vessel view, and (4) a transverse view of the aortic arch. This protocol can be obtained rapidly because these scans are easy to perform. Despite the fact that the sequential segmental approach universally used in the postnatal diagnosis of CHD is not specifically addressed here, the detected anomalies can be categorized according to these views, and a short differential diagnosis proposed. Abnormal cardiac and/or vascular landmarks shown on these key scans should lead to a referral in the fetal cardiac center for a more precise evaluation, as well as for counseling.

Non-immune goiter and hypothyroidism in a 19-week fetus: a plea for conservative treatment.

Hypothyroidism was documented by cordocentesis at 19 weeks in a fetus with non-immune goiter. Intra-amniotic thyroxine was injected at 25 weeks when amniotic fluid volume increased. Psychomotor outcome was normal. We argue that intra-amniotic thyroxine should not be used to treat the hypothyroidism but only to correct the development of polyhydramnios.

Obstetric US: watch the fetal hands.

Hand anomalies are difficult to diagnose and are often overlooked during prenatal ultrasonography (US). The spectrum of malformations varies from subtle finger deformities to the complete amputation of limbs. Malformations of the hand can be classified, according to the predominant anomaly, among the following categories: alignment abnormalities (clenched hand, camptodactyly, clinodactyly, hypokinesia, clubhand, phocomelia), thumb anomalies, abnormal size (macrodactyly, trident hand), abnormal echogenicity (abnormal calcifications), abnormal number (polydactyly, syndactyly, ectrodactyly), and constriction band sequence. A fetal hand anomaly has important diagnostic and prognostic implications as well as functional consequences. Malformation may be isolated but often is associated with a syndrome or karyotype anomaly. Classification and characterization of the anomaly help to narrow the differential diagnosis: Some malformations (clenched hand, hitchhiker thumb) are highly suggestive of a specific diagnosis. The detection of a fetal hand malformation warrants a complete work-up, including complete fetal and cardiac US examinations, as well as genetic counseling to determine whether familial inquiry and karyotype analysis are necessary.

Prenatal diagnosis of cloverleaf skull: watch the hands!

Pfeiffer syndrome is an extremely rare autosomal-dominant condition whose prenatal diagnosis has only been reported 6 times, mainly on the basis of a fetal cloverleaf skull deformity. Three types have been described, each with a different prognosis. This case report stresses the need to thoroughly analyze the fetus and particularly the fetal hands in case of prenatal observation of a cloverleaf skull. The discovery of characteristic hand abnormalities allowed the early prenatal detection of type 2 Pfeiffer syndrome in our patient.

Fetal hydronephrosis: is there hope for consensus?

This review article aims at summarizing the data regarding fetal and neonatal hydronephrosis, at correlating controversial data with the differences in the practice of obstetrical sonography from one country to another, and finally, at presenting our own criteria for fetal renal collecting system dilatation along with our own guidelines of postnatal investigation.