Prenatal findings in a monozygotic twin pregnancy with Costello syndrome

This report describes the prenatal findings in monozygotic twins with Costello syndrome. At 16 weeks one twin had 9 mm of nuchal oedema: coarctation of the aorta was diagnosed after birth. At 22^5/7 weeks relative macrocephaly, mild pyelectasia and moderate polyhydramnios were noted in both twins. In the following 4 weeks the polyhydramnios increased significantly without visualisation of filling of the stomach. Between 27^5/7 and 30^2/7 weeks a total of 9 l amniotic fluid was drained and at 30^4/7 weeks prelabor premature rupture of membranes (PPROM) occurred followed by premature labor and delivery. The neonatal period was complicated by growth retardation, deglutition problems, hypotonia, cardiac and respiratory problems. Both twins died on Day 57 because of respiratory insufficiency. Copyright © 2002 John Wiley & Sons, Ltd.     

Prenatal sonographic appearance of Beare-Stevenson cutis gyrata syndrome: two- and three-dimensional ultrasonographic findings

Beare-Stevenson cutis gyrata syndrome is characterized by craniofacial anomalies, particularly craniosynostosis, ear defects, cutis gyrata, acanthosis nigricans, anogenit anomalies, skin tags, and prominent umbilical stump. The prenatal two- and three-dimensional ultrasonographic findings of this rare condition is reported. The detection was made at 32 weeks of gestation in a woman with polyhydramnios and fetal head anomaly. The ultrasound appearance and postnatal follow‒up are presented. Copyright © 2001 John Wiley & Sons, Ltd.     

Prenatal diagnosis of bartter syndrome

Bartter syndrome, an autosomal recessive disorder of hyperaldosteronism and increased plasma renin, was suspected in an at-risk pregnancy due to the early occurrence of polyhydramnios. Further establishment of the diagnosis was accomplished by demonstrating increased levels of aldosterone in amniotic fluid and fetal cord blood. Electrolyte levels did not differ significantly from reported controls. It is thus suggested that polyhydramnios is the result of increased fetal urine output in Bartter syndrome and that amniotic fluid aldosterone is a reliable marker for the prenatal diagnosis of this condition.     

Prenatal sonographic diagnosis of Malpuech syndrome

Malpuech syndrome (MS) is a rare autosomal recessive syndrome featuring pre- and post-natal growth deficiency, mental retardation, facial dysmorphism, cleft lip and palate (typically midline or bilateral), caudal appendage, renal malformations and male genital abnormalities. A prenatal diagnosis of MS was made in this fetus based on the family history and a combination of conventional and 3D prenatal ultrasound findings. The family were consanguineous with an affected first child. Prenatal ultrasound in the second pregnancy demonstrated bilateral cleft lip and palate in association with intrauterine growth retardation on serial prenatal ultrasound scans. Dysmorphic facial features and a small penis consistent with the diagnosis were confirmed on 3D scanning. Post-natal examination of the neonate confirmed the diagnosis of MS. To the best of our knowledge, this is the first prenatal diagnosis of this syndrome. Copyright © 2006 John Wiley & Sons, Ltd.     

Fetal bradycardia in the first trimester: an unusual presentation of atrial extrasystoles

We report a fetus with fetal bradycardia at 13 weeks of gestation secondary to atrial extrasystoles. The fetus subsequently developed paroxysmal supraventricular tachycardia and hydrops fetalis. The cardiac arrhythmia recovered spontaneously without any medical intervention. This case illustrates that atrial ectopic beats can present in the first trimester with fetal bradycardia. Rapidly evolving hydrops fetalis secondary to supraventricular tachycardia can develop, warranting close monitoring with weekly heart rate assessment. Fetal bradycardia secondary to atrial extrasystole should be differentiated from first trimester sinus bradycardia and those associated with major structural cardiac abnormality, which have a high fetal loss rate. Copyright © 2002 John Wiley & Sons, Ltd.     

Prenatal diagnosis of multiple pterygium syndrome associated with Klinefelter syndrome

A nonlethal form of multiple pterygium syndrome (MPS) was diagnosed prenatally at 16 weeks of gestation with associated Klinefelter syndrome in the same fetus. The ultrasound findings were cystic hygroma, hypertelorism, micrognathia, low-set ears, flexion contractures of upper and lower extremities and rocker-bottom foot. Genetic amniocentesis revealed a 47,XXY karyotype. After genetic counseling, the parents decided to have a therapeutic abortion. We presented this case for the purpose of further describing the early ultrasound findings and clinical features of multiple pterygium syndromes. Also, what makes our patient unique is the coincidental presence of Klinefelter syndrome with MPS. To our knowledge, this is the first case in the literature in which a 47,XXY karyotype has been found in a fetus with multiple pterygium syndrome. The importance of delineating the exact subtype of MPS and making a precise differential diagnosis becomes critical during the process of evaluation of patients with MPS. Copyright © 2003 John Wiley & Sons, Ltd.     

Prenatal diagnosis of Pierre–Robin sequence as part of Stickler syndrome

Stickler syndrome or hereditary progressive arthro-ophthalmopathy, is an autosomal dominant condition characterized by ocular manifestations, arthritic changes, orofacial features and deafness, in variable degrees. We report the first case of prenatal diagnosis of Stickler syndrome in a child with a Pierre–Robin sequence (PRS) causing a polyhydramnios. When isolated polyhydramnios is not explained by immunological, metabolic or infectious causes, swallowing difficulty due to PRS must be considered. As PRS is aetiologically heterogenous, the prognosis depends on the cause. Genetic investigations and familial history must be taken into account. Here, in a context of familial Stickler syndrome, making the prenatal diagnosis of PRS as part of Stickler syndrome allowed us to reassure the parents and to anticipate airway trouble at the child's birth. Copyright © 2002 John Wiley & Sons, Ltd.     

Prenatal diagnosis and treatment of fetal long QT syndrome: a case report

We report a case of a fetus presenting with bradycardia, intermittent atrioventricular (AV) block, ventricular tachycardia (VT) and the signs of fetal congestive heart failure (ascites and scrotal hydrocele) during mid-gestation. Prenatal treatment with β-adrenergic blocker (propranolol) and digitalis glycosides was prescribed because of suspicion of long QT syndrome occurring with fetal congestive heart failure. The male baby was born at 39 weeks of gestation and showed a prolonged QT interval (QTc = 492 ms) and frequent variable AV block or alternating left and right bundle branch block, depending on the atrial rate. Prenatal administration of lidocaine failed to correct the fetal VT. Conversely, propranolol decreased the attack frequency of fetal VT. Postnatal administration of the K⁺ channel opener (nicorandil) successfully shortened the QT interval and improved the outcome. Copyright © 2002 John Wiley & Sons, Ltd.     

Prenatal diagnosis of Pfeiffer syndrome type II

Pfeiffer syndrome is an autosomal dominant disorder characterized by coronal craniosynostosis, midface hypoplasia, broad thumbs and great toes. On the basis of clinical findings, three subtypes have been delineated. The clinical variability of Pfeiffer syndrome as well as other causes of craniosynostosis can make a prenatal diagnosis based on sonography alone difficult. We describe a fetus in whom sonographic findings (including 3D ultrasound) suggested a Pfeiffer syndrome type II and in which subsequent molecular analysis verified the diagnosis by identifying a de novo mutation in the FGFR2 gene. To the best of our knowledge, this is the first report of a prenatal molecular diagnosis of Pfeiffer syndrome in a patient without family history. Copyright © 2004 John Wiley & Sons, Ltd.     

Macroglossia: Prenatal ultrasonographic diagnosis and proposed management

A case in which macroglossia was the sole unusual prenatal sonographic finding in a fetus affected with trisomy 21 is presented. The differential diagnosis of fetal macroglossia is given, emphasizing its strong relationship to fetal aneuploidy, together with the principles for evaluation and management.     

Tibial hemimelia syndrome: Prenatal diagnosis by real-time ultrasound

The tibial hemimelia syndrome is a rare autosomal dominant condition associated with limb deficiencies. We recently diagnosed this condition in a pregnancy at 16·5 weeks' gestation by ultrasound and a positive family history. To our knowledge, this represents the first case to be detected prenatally.