Prenatal diagnosis of dilated coronary sinus with persistent left superior vena cava in a fetus with trisomy 18

A case of dilated coronary sinus with persistent left superior vena cava diagnosed at 33 weeks in a fetus with trisomy 18 is reported. The features of this cardiac anomaly on prenatal ultrasonography and its association with trisomy 18 are discussed. Published in 2003 John Wiley & Sons, Ltd.     

Double-outlet right ventricle with absent left ventricle and mitral atresia in a fetus with a deletion 22q12

Interstitial deletions of chromosomal region 22q12 are rare. We report the prenatal diagnosis of a de novo interstitial deletion 22q12. The fetus was karyotyped because of a complex cardiac anomaly. Conventional and molecular cytogenetics showed a female karyotype with a de novo pericentric inversion of one chromosome 22 associated with a deletion of the chromosomal region 22q12 leading to a partial monosomy 22q12. At autopsy, the fetus showed double-outlet right ventricle (DORV) with absent left ventricle and mitral atresia. This observation suggests that one or several genes for the early looping step of heart development may reside in chromosomal region 22q12. Further studies are needed to identify these genes, and to search microdeletions of 22q12 region in patients with DORV. Copyright © 2004 John Wiley & Sons, Ltd.     

Currarino triad: concurrent US and MRI diagnosis in the fetus and the mother

We report an unusual case of the complete Currarino triad diagnosed in a fetus at 21 weeks' gestation by means of prenatal ultrasonography (US). The highly suspicious findings in the fetus were accompanied by analogous US findings in the mother who suffered from mild symptoms of up to that time unrecognized Currarino triad. Consecutively, magnetic resonance imaging (MRI) confirmed the findings simultaneously in the fetus and in her mother. This is the first report describing the prenatal diagnosis of Currarino triad without the background of positive family history. To our knowledge, the prenatal MRI findings of Currarino triad have not yet been published. Copyright © 2002 John Wiley & Sons, Ltd.     

Prenatal diagnosis of trisomy 6 mosaicism

We report on a fetus with multiple congenital anomalies detected at the prenatal ultrasound examination and a trisomy 6 mosaicism in the amniocytes. The pregnancy was interrupted in the 18th gestational week and the autopsy revealed malformations including cleft right hand, arthrogryposis and hypoplasia of the 4th digit of the left hand, syndactylies and overlapping toes, facial dysmorphism with hypertelorism and low-set ears, ventricular septum defect (VSD), intestinal malrotation and scoliosis. Trisomy 6 mosaicism was detected in cultured amniocytes (13.3%), confirmed in umbilical cord fibroblasts (40%) and by fluorescence in situ hybridization on other fetal tissues. Trisomy 6 mosaicism is a very rare finding with only eight cases previously reported to our best knowledge. Copyright © 2005 John Wiley & Sons, Ltd.     

Prenatal sonographic diagnosis of intracranial haemorrhage: Report of a case with a sinusoidal fetal heart rate tracing,and review of the literature

The sinusoidal fetal heart rate pattern has been described in association with severe fetal anaemia, with fetal hypoxaemia, and with the administration of parenteral narcotics. Here, we report a case of decreased fetal movement in which a sinusoidal tracing was recorded. The sonographic diagnosis of a massive fetal intracranial haemorrhage was made. A non-interventive approach was taken and the fetus died soon after in utero. We review 28 previous cases in which the prenatal sonographic diagnosis of fetal intracranial haemorrhage was made, including the underlying maternal and fetal factors and neonatal outcomes. We propose that the sinusoidal tracing in this case was due to the intracranial bleed and suggest that fetal intracranial haemorrhage be considered in the sonographic evaluation of the fetus with a sinusoidal pattern.     

Fetal fibrochondrogenesis at 26 weeks' gestation

An Erratum has been published for this article in Prenatal Diagnosis 22(13) 2002, 1241. Fibrochondrogenesis is a rare and lethal osteochondrodysplasia with an autosomal recessive mode of inheritance. We report a male fetus in which the diagnosis of lethal osteochondrodysplasia was suspected on prenatal ultrasound and radiological examinations during the second trimester of pregnancy. After termination of pregnancy, fibrochondrogenesis was diagnosed by radiological examination and histological study of fetal bones. Interwoven fibrous septa and fibroblastic degeneration of chondrocytes are pathognomonic. The recurrence rate is 25% and accurate diagnosis is necessary to enable genetic counselling. Copyright © 2002 John Wiley & Sons, Ltd.     

Prenatal diagnosis of renal agenesis in a twin gestation

Bilateral renal agenesis is a lethal congenital anomaly. It appears to be transmitted in a polygenic pattern. The prenatal ultrasound findings consist of severe oligohydramnios, absence of the fetal bladder, and failure to identify fetal kidneys. Twin gestations with renal agenesis have been described in the paediatric literature. We detail a case of a patient with two prior affected pregnancies with bilateral renal agenesis. Her latest pregnancy was diagnosed prenatally, with one fetus with bilateral and the other fetus with unilateral renal agenesis. The ultrasound findings should be differentiated from the stuck twin phenomenon.     

First-trimester diagnosis of hydrolethalus syndrome in a Chinese family

We report a case resembling hydrolethalus syndrome in a Chinese family. Fetal polydactyly, syndactyly, encephalocele and cardiac malformation were detected on ultrasound examination at 12 weeks' gestation. Termination of pregnancy was performed, and postmortem examination confirmed the findings. This is the first report of a first-trimester prenatal diagnosis of hydrolethalus syndrome in the Chinese population. Copyright © 2004 John Wiley & Sons, Ltd.     

Fetus in fetu—from prenatal ultrasound and MRI diagnosis to postnatal confirmation

We report a case of fetus in fetu presented as a complex intra-abdominal heterogeneous cystic lesion during ultrasound examination of the fetus at 25 weeks of gestation. Progressive growth of this mass was noted in the prenatal period. Fetal magnetic resonance imaging provided additional information to aid in the prenatal diagnosis. This allows proper counselling for the parents and helps to plan the postnatal management. Surgical excision was carried out in the early neonatal period and the diagnosis of fetus in fetu was confirmed. Copyright © 2007 John Wiley & Sons, Ltd.     

Early prenatal diagnosis of cartilage-hair hypoplasia (CHH) with polymorphic DNA markers

Cartilage-hair hypoplasia (CHH) is an autosomal recessive disorder resulting in short stature and hypoplasia of hair. Associated features include impaired T-cell-mediated immunity, deficient erythropoiesis, gastrointestinal dysfunction, and an increased risk of malignancies. As the condition may, in some cases, be severe or even fatal during childhood, families with a previous history of CHH may wish to have prenatal diagnosis. We have previously assigned the gene for CHH to the proximal 9p by linkage analysis using several polymorphic DNA markers. Here we report the prenatal testing for CHH in three Finnish and one Australian family using three DNA markers closely linked to the CHH gene. In three cases a fetus unaffected with CHH was predicted at the probability level of more than 94 per cent. In one case, an affected fetus was predicted. The results were in concordance with ultrasonography performed for all fetuses. The three children born to date were unaffected as predicted. The DNA marker-based analysis thus provides a useful method for early prenatal testing for CHH.     

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.     

Dilated coronary sinus in prenatal echocardiography; identification,associations and outcome

The dilated coronary sinus (DCS) has only recently been clearly visualised in the fetus due to progress in prenatal echography. This is a retrospective study of 22 fetuses presenting with DCS revealed by prenatal echography. We report the circumstances leading to the detection of a DCS and the neonatal outcome of these fetuses. The coronary sinus was defined as dilated depending on its visualisation in cross-section from the ‘4 chamber’ view, as well as a pseudo inter-atrial septal defect from a more posterior view. In each case the gestational age, circumstances of detection, associated anomalies and postnatal outcome are reported. The circumstances were: evaluation of a clearly identified DCS in four cases and during detailed fetal echocardiography because of suspected congenital heart disease in 18 cases. Five cases were associated with a cardiac anomaly, three with an extracardiac anomaly, six with both cardiac and extracardiac anomaly and eight were isolated. Postnatal outcome was related to the associated anomaly. In conclusion, it is important that the echography image be correctly interpreted, as a DCS often implies possible associated defects and therefore affects prognosis. When not associated with other anomalies this condition is not considered serious. Copyright © 2002 John Wiley & Sons, Ltd.     

Cerebro-costo-mandibular syndrome in a father and a female fetus: early prenatal ultrasonographic diagnosis and autosomal dominant transmission

Ultrasonography in a female fetus revealed cystic cervical hygroma, severe micrognathia, and vertebral and upper limb anomalies suggestive of cerebro-costo-mandibular syndrome (CCMS) which was diagnosed ultrasonographically at 16 weeks' gestation. The father is affected and presents with a Pierre Robin sequence, short stature and typical costovertebral anomalies. CCMS is a rare and severe disorder. The high frequency of sporadic cases, vertical transmission, and the excess of sibs affected via horizontal transmission suggest dominant autosomal mutation with possible germinal mosaicism. The vertical familial case detailed in the present report is a reminder of the high risk when one parent or one sibling is affected and the extreme variability of phenotype and costal ossification. Early prenatal ultrasound diagnosis is possible in a severely affected fetus. Copyright © 2001 John Wiley & Sons, Ltd.     

Dehydrated hereditary stomatocytosis: a cause of prenatal ascites

Dehydrated hereditary stomatocytosis (DHS) is a rare congenital hemolytic anemia. We observed that some patients had presented with different prenatal or perinatal forms of edema in some kindreds. Within weeks or months after birth, these exhibited a spontaneous, complete and definitive resorption. We assumed that some DHS patients, who were born without edema before ultrasound was available, might nonetheless have exhibited this during the prenatal period. The present report follows up the first pregnancy in a woman with overt DHS, but not herself having a known history of perinatal effusions. Ultrasound revealed that the fetus displayed ascites that disappeared prior to birth. The neonate had DHS. Prenatal edema must therefore be more frequent in DHS than known until now. DHS is another cause of prenatal edema to be considered in the differential diagnosis. Copyright © 2001 John Wiley & Sons, Ltd.     

Successful outcome following prenatal intervention in a female fetus with bladder outlet obstruction

Bladder outlet obstructions are a diverse and heterogeneous group of developmental abnormalities that generally involve obstruction of the proximal urethra in the male fetus. Indications for prenatal intervention are few and are usually restricted to the male fetus because bladder outlet obstruction in female fetuses is usually caused by complex cloacal development anomalies. We report on a female fetus with an enlarged bladder and a dilated proximal urethra (known as typical keyhole sign). A vesicoamniotic shunt was performed despite non-reassuring prognostic factors, but the procedure resulted in a successful outcome. We propose that in selected cases of bladder outlet obstruction, fetal intervention should be considered even when the fetus is female. Copyright © 2005 John Wiley & Sons, Ltd.     

Prenatal diagnosis of Bruck syndrome

Bruck syndrome is an autosomal recessive connective tissue disorder combining features of osteogenesis imperfecta and arthrogryposis multiplex congenita. There are only few reports describing this rare syndrome of multiple fractures and joint contractures that is thought to be a subtype of osteogenesis imperfecta. We report the first case of prenatal diagnosis of this syndrome in a fetus at 23 weeks of gestation. Ultrasound findings included brachycephaly, retrognathia marked shortening and bowing of both femurs, bilateral fixed flexion of the elbows, bilateral fixed extension of the wrists and partially fixed flexion of the knees. The parents opted for termination of pregnancy. Macroscopic and radiologic examination of the aborted fetus confirmed the prenatal diagnosis, whereas morphological studies of the bone tissue found no hard evidence of osteogenesis imperfecta, probably due to the early stage of pregnancy and the heterogeneity of the syndrome itself. Copyright © 2005 John Wiley & Sons, Ltd.     

DNA-based prenatal carrier detection for group a xeroderma pigmentosum in a chorionic villus sample

DNA-based prenatal carrier detection of group A xeroderma pigmentosum (XP-A) is reported. Chorionic villus sampling was done at the tenth gestational week in a pregnant woman whose first child suffers from XP-A. Genomic DNAs from the villi, proband, and parents were PCR (polymerase chain reaction)-amplified using three sets of primers, because the PCR and a subsequent enzyme digestion with HphI, AlwNI, or MseI may detect the three most frequent mutations of the XP-A complementing gene (XPAC) in Japanese XP-A patients. The results showed that the proband is a homozygote and that the parents and fetus are heterozygotes for a base substitution at the 3′ acceptor site of intron 3 of XPAC, indicating that the fetus is a healthy carrier of XP-A. This is the first case of prenatal carrier detection of the disorder.     

Early ultrasound diagnosis of Neu–Laxova syndrome

We report the mid-trimester prenatal diagnosis of Neu–Laxova syndrome (NLS) in two at risk families utilizing serial sonographic examinations. Ultrasound and pathologic findings from seven affected pregnancies, the largest case series of NLS to date, are presented. One fetus had anencephaly and incomplete rachischisis, an anomaly that has not been previously reported in association with NLS. Ultrasonographic detection of severe intrauterine growth restriction (IUGR), abnormally postured limbs, microcephaly, and edema allowed prenatal diagnosis of NLS in five of these at risk pregnancies during the mid-trimester. Growth curves derived from serial sonograms reveal abnormalities of all standard biometric measurements. The growth discrepancy was most pronounced in the measurements of the biparietal diameter, which were consistently less than two standard deviations below the mean across all gestational ages. This case series confirms that aberrant growth and anomalies may be detected sufficiently early in gestation to permit prenatal diagnosis of NLS. Copyright © 2001 John Wiley & Sons, Ltd.     

Prenatal diagnosis of an isochromosome 5p in a fetus with increased nuchal translucency thickness and pulmonary atresia with hypoplastic right heart at 14 weeks

We report on a fetus presenting with increased nuchal translucency at 11 weeks' gestation, suggesting cystic hygroma. Chorion villous sampling was performed, and cytogenetic analysis revealed a supernumerary isochromosome 5p leading to tetrasomy 5p: 47,XX,+ i(5p)[7]/46,XX[5] after short-term culture and 47,XX,+ i(5p)[20] after long-term culture. Subsequent targeted sonographic follow-up at 12 and 14 weeks revealed further increase of the NT to 6.4 mm and the additional presence of a congenital heart defect (pulmonary atresia with intact ventricular septum). Termination of pregnancy was performed, and the heart defect was confirmed. Isochromosome 5p was found in varying proportions in all examined organs. Only a few cases of mosaic tetrasomy 5p have been reported in the literature, and recent reports on prenatally detected isochromosome 5p showed a possible relationship to increased nuchal translucency in some cases and also a possible role of confined mosaicism in others. Whereas cases with confined mosaicism did not show suspicious signs on ultrasound, true mosaicism conversely showed increased nuchal thickness as well as structural abnormalities. This is the first report on the association of a cardiac defect with this chromosome aberration. Copyright © 2004 John Wiley & Sons, Ltd.     

Female pseudohermaphroditism in a fetus with a deletion 9(q22.2q31.1)

Interstitial deletions of chromosomal region 9q are rarely seen. We report the first prenatal diagnosis of a de novo interstitial deletion 9q. The fetus was karyotyped for intrauterine growth retardation (IUGR). Conventional and molecular cytogenetics showed female karyotype with a de novo deletion of the chromosomal region 9(q22.2q31.1) leading to a partial monosomy 9q. At autopsy, the fetus showed growth retardation, dysmorphy, and a female pseudohermaphroditism. These results suggest that a gene(s) for genital development reside in chromosomal region 9q22.2q31.1. Copyright © 2002 John Wiley & Sons, Ltd.