OBJECTIVE: To evaluate the conditions associated with absent ductus venosus (ADV) diagnosed by prenatal ultrasonography. METHODS: Retrospective review of 23 cases with ADV diagnosed in two tertiary referral centers with a general screening policy concerning Doppler assessment of the ductus venosus. The results are discussed together with 63 cases from ...

Otocephaly, characterized by mandibular hypoplasia or agnathia, ventromedial auricular malposition (melotia) and/or auricular fusion (synotia), and microstomia with oroglossal hypoplasia or aglossia, is an extremely rare anomalad, identified in less than 1 in 70,000 births. The malformation spectrum is essentially lethal, because of ventilatory problems, and represents a developmental field ...

OBJECTIVES: We analyzed the prenatal presentations and perinatal outcomes of Klippel-Trenaunay-Weber syndrome involving fetal thigh in order to provide relevant information for prenatal counseling. METHODS: We reviewed our own cases and searched for cases from Medline that met the criteria of Klippel-Trenaunay-Weber syndrome involving fetal thigh. Those with isolated hemangioma, ...

Fetal lymphangiomas are rare congenital anomalies of the lymphatic system most commonly presenting in the head and neck. Cystic abdominal lymphangiomas are more rare with only a few cases reported prenatally. We report a case of a prenatally detected abdomino-perineal lymphangioma that mimicked the more fatal prenatally detected sacrococcygeal teratoma ...

Conventional cytogenetic studies have revealed more number of females in spontaneous abortion and it has been assumed that a large proportion of those were resulted from maternal contamination and overgrowth of maternal decidua in long term culture. In this study we have attempted to overcome difficulties of conventional cytogenetics by ...

In the present study we describe a patient with characteristic brachydactily, developmental delay and interstitial del 13q22-->q31. After the review of the literature, few cases sharing similar chromosomal deletions were found and they displayed little resemblance with our patient. We discuss the phenotype correlation among the deleted regions in such ...

Fragile X syndrome (FRX) is the most common inherited cause of mental retardation affecting approximately 1/4000 males and half as many females. Mosaicism has been reported in 12-41% of male cases. We present a 47-year-old male with the typical FRX phenotype referred for an evaluation of mental retardation and a ...

Relatively, few reports of deletions involving the distal long arm of chromosome 4 (4q) exist. Five further cases are described and the findings are compared with those in previous literature reports. Distal 4q deletions may be recognized by the distinctive appearance of the fifth finger, which is stiff with a ...

Colpocephaly is an abnormal enlargement of the occipital horn of the lateral ventricle, also described as persistence of the fetal configuration of the lateral ventricles. Since it was first described, colpocephaly has been found in association with several abnormalities of the brain. Various etiologies have been postulated, including intrauterine/perinatal injuries, ...

Hemoglobin E-Saskatoon (beta22-Glu-Lys) is found worldwide but is extremely rarely. Two cases of pregnant women who carried the abnormal hemoglobin and the various problems that arise from it are reported. A discussion of the combinations with other abnormal hemoglobin is also presented.

Hydronephrosis is the most common genitourinary tract anomaly identified on prenatal ultrasound studies. Ureteropelvic junction obstruction accounts for approximately 50% of the cases of prenatally detected hydronephrosis. Postnatal evaluation allows for the identification of the cause and further management. Rarely, in utero intervention may be performed for severe oligohydramnios associated ...

OBJECTIVE: The purpose of this report is to describe the in utero sonographic appearance of megacystis-microcolon-intestinal hypoperistalsis syndrome (MMIHS) and examine the role of vesicocentesis. METHODS: Two cases of the sonographic appearance of MMIHS were reviewed. We performed vesicocentesis in 2 fetuses with MMIHS and performed vesicoamniotic shunting in 1 ...

OBJECTIVES: To report five cases of mosaic trisomy 16 with variable outcomes in the context of the literature on mosaic trisomy 16. Complications in these cases include preeclampsia, IUGR, fetal anomalies, and death, with no predictable pattern. METHODS: Observation of five new cases and statistical analysis of 125 reported cases ...

We collected records of 352 cases of trisomy 18 karyotyped between 1964 and May 2003 from the two major cytogenetic laboratories in Northeastern Switzerland. For more detailed information about the cases we contacted the referring physicians and/or the families of the patients. In this way we collected data about survival ...

This case report presents the dental management of a 13-year-old girl with mosaic trisomy 9. She had: (1) severe psychomotor retardation; (2) short stature; (3) progressive microcephaly; (4) flat feet; (5) genu valgum; and (6) severe kyphoscoliosis. Dysmorphic facial features included: (1) maxillary prognathism; (2) narrow high-arched palate; (3) short ...

OBJECTIVE: Several studies have noted an increased prevalence of pyelectasis in male fetuses. It is speculated that pyelectasis represents a normal physiologic variant in males, whereas its presence in females indicates an increased risk of chromosomal abnormalities. Thus, we sought to investigate the association between fetal gender and the risk ...

OBJECTIVES: Enterolithiasis (multiple calcifications of intraluminal meconium) is a rare, prenatal ultrasonographic finding. In this study, our aim was to evaluate the prenatal diagnostic features and discuss the management of the patients. METHODS: The data of two cases of prenatally diagnosed fetal enterolithiasis were collected from ultrasound scan, magnetic resonance ...

OBJECTIVES: To correlate prenatal and postnatal findings of urorectal septum malformation sequence and to study spectrum of malformation. METHODS: Nine cases were reviewed with features suggestive of urorectal septum malformation (URSM) sequence. Associated anomalies were studied. Sex of the fetus was assigned by karyotype when available or by examination of ...

We present here the first case of constitutional tetrasomy 18p from India. A 3 year old female with developmental delay and dysmorphic features revealed 47,XX,+mar karyotype. The small meta-centric marker chromosome was identified as i(18p) with m-FISH followed by m-BAND. Parents and a normal sibling of the proband revealed normal ...

OBJECTIVES: To present a comprehensive analysis of autopsy findings in 206 fetuses referred to our genetic center and to assess the clinical utility of fetal autopsy in reaching a final diagnosis, which is essential for counseling regarding the risk of recurrence. We also compared the autopsy findings with prenatal ultrasound ...

BACKGROUND: Prenatal management of abnormal abdominal situs is challenging since prognosis is highly variable depending on the associated malformations. METHODS: The authors report on two cases of ambiguous abdominal situs. Prenatal management included specialized ultrasound examination of fetal anatomy and heart, amniocentesis for determination of the fetal karyotype and fetal ...

OBJECTIVE: This study was undertaken to investigate the natural history and clinical importance of choroid plexus separation (a > or = 3 mm distance between the choroid plexus and medial wall of the lateral ventricle) as an isolated finding in the second trimester. METHODS: This was a 5-year retrospective review ...

The deletion of the short arm of the chromosome 13, also known as 13q syndrome, is an extremely rare chromosomal disorder. Clinical manifestations include retinoblastoma, brain anomalies, mental and growth retardation, as well as renal, cardiac, gastrointestinal, facial, lip and digital defects. Antenatal diagnosis is suspected when the presence of ...

The presence of acquired clonal cytogenetic abnormalities in hematopoietic cells is one of the diagnostic hallmarks of myelodysplastic syndromes (MDS). Such anomalies may help in defining prognostic groups. We analyzed eight pediatric MDS, and herein describe three new cases, one de novo and two therapy-related, presenting an unbalanced rearrangement of ...

Complete trisomy 9 is a very rare chromosome aneuploidy, associated with specific patterns of multisystem dysmorphism and a wide spectrum of congenital anomalies. We present a case of complete trisomy 9 with prenatal sonographic findings in the second trimester. The combination of sonography and karyotyping from cordocentesis enabled us to ...

OBJECTIVES: The karyotype 46,X,isodicentric Y has rarely been reported in the context of prenatal diagnosis. The literature is replete with descriptions of individuals with 46,X,isodicentric Y/45,X mosaicism, presenting with a spectrum of phenotypes. The postnatal phenotype is believed to depend on the extent of mosaicism in the gonads or other ...

OBJECTIVES: To examine the accuracy of sonographic findings of routine ultrasound examinations in patients with a proven histological diagnosis of complete or partial hydatidiform mole referred to a supra-regional referral center, and to examine the relationship of sonographic findings to gestational age across the first and early second trimesters. METHODS: ...

Three cases of myelodysplastic syndrome (MDS) complicated with inflammatory intestinal ulcers all had cytogenetic abnormalities with trisomy 8. The first two patients were diagnosed with intestinal Behçets disease and were successfully treated with salazosulphapiridine, and the third patient died after leukemic transformation. We review the reported cases of MDS complicated ...

Hydrops fetalis is associated with a wide range of abnormalities. In about 20% of cases of non-immune fetal hydrops, no cause is found despite investigations including routine post-mortem examination and enzyme studies may be indicated to detect an underlying metabolic storage disease. Fetal hydrops due to mucopolysaccharidosis type VII is ...

Anencephaly is a rare congenital anomaly in which the forebrain, meninges, vault of the skull, and scalp all fail to form. We report a case of a 32-year-old gravida 2 woman with an anencephalic fetus detected at the 21st gestational week. She had a history of an intrauterine fetal death ...

BACKGROUND: To find out about the prenatal diagnosis rate of myelomeningocele (MMC) by ultrasound scan in patients referred to the Children's Hospital Medical Center in Tehran, Iran from July 2004 to July 2005. METHODS: We included 140 children born with MMC and who were referred for management, surgery and treatment ...

We report on an 1-day-old boy with classical lissencephaly (grade 1, according to Kato and Dobyns, 2003) associated with an extended phenotype, including dolichocephaly, and hair and nail defects. The diagnosis of lissencephaly was made in utero, allowing the rapid characterization of the phenotype at birth. Because previously reported cases ...

Fukuyama-type congenital muscular dystrophy (FCMD) is characterized by muscular dystrophy and cortical dysgenesis of the cerebrum and cerebellum. We investigated the extent and nature of tauopathy in the brains of 7 postfetal (14-34 years of age) and 2 fetal (18- and 20-week gestational age) FCMD cases. In all postfetal cases, ...

BACKGROUND: The thalassemias are an inherited group of heterogeneous anemias in which one or more of the globin chains in the hemoglobin tetramer are absent. Fetuses with homozygous alpha-thalassemia, which is particularly prevalent in people of Southeast Asian extraction, experience deficient alpha-globin chain synthesis and cannot produce hemoglobin F (the ...

OBJECTIVE: To evaluate the incidence of fetal dextrocardia, associated cardiac and extracardiac malformations, and outcome. DESIGN: Retrospective echocardiographic study. SETTING: Two tertiary centres for fetal cardiology. PATIENTS: 81 consecutive fetuses with a fetal dextrocardia presenting at Guy's Hospital, London, between 1983 and 2003 and at Hôpital Robert Debré, Paris, between ...

A case of fetal chest wall cystic lymphangioma diagnosed prenatally at 28 weeks' gestation is reported. Ultrasound examination showed a multilocular, large cystic mass (10 x 22 x 29 mm) on the left side of the fetus in the area of the lower chest and upper abdomen, without color flow ...

Holoprosencephaly is one of the rare types of craniofacial congenital anomaly characterized by failure of differentiation of the procencephalon to diencephalon and telencephalon derivatives that accompanied by variable degree of orbitofacial dysmorphism. The case presented to our hospital in the third trimester of pregnancy with intrauterine fetal death was diagnosed ...

Hypertrichosis cubiti (HC) or hairy elbow syndrome (OMIM # 139600) consists of a localised form of long vellus hair on the extensor surfaces of the distal third of the upper arm and the proximal third of the forearm bilaterally, or occasionally on other parts of the body. In the 28 ...

We herein report a case of type I congenital cystic adenomatoid malformation of the lung (CCAML) with non-immune hydrops fetalis (NIHF), a mediastinal shift and polyhydramnios diagnosed at 24 weeks' gestation by ultrasonography. The fetus was treated with a cyst-amniotic shunt at 29 weeks' gestation. Following a postnatal whole resection ...

Cavernous lymphangiomas are characterized by penetration through the subcutaneous areas between the muscular septa and represent rare variants of the more common superficial lymphangioma. Although frequently described in the fetus when involving the posterior aspect of the neck (i.e. cystic hygroma), involvement of the craniofacial region is rare. We describe ...

The VACTERL association is characterized as a non-random pattern of defects including at least three of the following cardinal features: vertebral anomalies, anal atresia, cardiovascular malformations, tracheoesophageal fistula, renal and limb anomalies, and is postulated to be a very heterogeneous disorder. These defects can also be seen as part of ...

We described a new case of mosaic isochromosome 20q revealed by amniocentesis. The propositus presented with craniofacial dysmorphism, clubfeet, and vertebral abnormalities. A 46,XX,i(20)(q10)[14]/46,XX[1] karyotype was confirmed by FISH on cultured cells. The pregnancy was terminated. From review of literature, fetus with mosaic isochromosome 20q identified on amniocentesis are most ...

We applied comparative genomic hybridization (CGH) in six patients with de novo prenatal or postnatal extra marker chromosomes (MC). In four cases, MCs were mosaic and in one of them, the MC was detected in less than 50% of the cells. In three cases, CGH identified the origin of the ...

In this report, we describe 3 cases of pentalogy of Cantrell diagnosed prenatally with sonography. All 3 fetuses had an omphalocele and ectopia cordis; 2 of them also had craniorachischisis, in which the open cranial defect (anencephaly or exencephaly) is continuous with the completely open spine (spinal dysraphism). The association ...

Porokeratosis is a genodermatosis characterized by abnormal epidermal keratinization with the histological feature of cornoid lamella. There are many clinical variants, but two or more of these variants rarely occur in a single patient. This variation in clinical presentation may be due to the different phenotypic expression of a common ...

We report three cases of late third trimester fetal death in utero consequent to fetal exsanguination from the chorionic vasculature. In general, fetal hemorrhage is unusual, exsanguination is rare and the location and basis of the hemorrhage varies widely. Intragestational and intrapartum hemorrhage is far more often of maternal rather ...

Tetrasomy of proximal 14q is an extremely rare condition and has never been reported to be associated with survival. We here report on the first case of mosaic tetrasomy of 14pter-q13 due to a de-novo supernumerary pseudoisodicentric chromosome in a 2-year-old boy with multiple dysmorphisms and malformations. The marker was ...

BACKGROUND: Transplacental hemorrhage can be life threatening to a fetus and has important maternal treatment implications. In contrast, hereditary persistence of fetal hemoglobin is a condition that has little consequence. The Kleihauer-Betke test, which is routinely used to document transplacental hemorrhage, will be positive in either case. CASES: We report ...

Nowadays, improved ultrasound techniques enable the detection of more subtle congenital abnormalities at an earlier stage of fetal development. Current cytogenetic techniques can characterize a chromosomal abnormality in greater detail. These advancements in both diagnostic possibilities have helped to answer many questions but have also created new issues and dilemmas ...

The chance of two chromosome abnormalities occurring in one conceptus is very small. However, some authors have suggested that double aneuplodies (DAs) might be more common than the product of their individual frequencies. The nonrandomness of such DA events was considered to be evidence that nondisjunction (NDJ) may be genetically ...