Umbilical cord ulceration and intestinal atresia: a new association?

In three fetuses, congenital intestinal atresia was associated with linear ulcerations of the umbilical cord. In two cases, hemorrhage was seen from the cord ulcer. Both fetuses required emergency cesarean section for fetal distress and were born anemic. The third fetus was mildly hydropic, attributed to hemorrhage, and was stillborn. The mechanism of the association could not be determined. These cases suggest a risk of prenatal umbilical cord hemorrhage in infants with intestinal atresia.     

Oesophageal atresia with a terminal deletion of chromosome 2q37.1

We herein report the case of a newborn girl with oesophageal atresia associated with cardiac and gastrointestinal anomalies, including patent ductus arteriosus, tracheomalacia, and gastro-oesophageal reflux with hiatus hernia. In addition, she had a terminal deletion of the long arm of chromosome 2, with a breakpoint of 2q37.1. The patient died following a cardiac arrest at 90 days of age. No cause of death was identified at autopsy.     

Large interstitial deletion of chromosome 13q and severe short stature: clinical report and review of the literature

We report a 16 year old African American female with an interstitial deletion of chromosome 13 comprising approximately 40% of the long arm of this chromosome [karyotype 46,XX, del(13)(q14.12q31.2)]. We believe that this case is interesting because of the large size of the chromosome deletion, the severe growth retardation seen in the proband and her prolonged survival.     

Intrauterine hemorrhage from an umbilical cord ulcer associated with fetal duodenal atresia: a case report

In the recent years, the association between congenital intestinal atresia and umbilical cord ulceration has been demonstrated; however, this complication is rarely encountered. To the best of our knowledge, only 14 cases on this association have been published previously. We encountered a case of acute intrauterine hemorrhage from an umbilical cord ulcer in a fetus with duodenal atresia that resulted in early neonatal death. There is little information available on the association between congenital intestinal atresia and umbilical cord ulceration. Greater understanding may alter the obstetric management. Although the prevention of sudden perinatal death is considered to be difficult, frequent fetal monitoring and detailed ultrasonographic examinations may facilitate the early detection of this condition, thereby enabling the rescue of the affected fetuses. Further investigation is required to establish the management protocol.     

Tall stature and minor facial dysmorphisms in a patient with a 17.5 Mb interstitial deletion of chromosome 13 (q14.3q21.33): clinical report and review

We present a 4-year-old boy with developmental delay and several into minor dysmorphic features due to an interstitial deletion of 17.5 Mb on the long arm of chromosome 13 [46,XY,del (13)(q14.3q21.33)]. The deletion was detected initially during routine cytogenetic screening and further analyzed on a genome-wide BAC array. In contrast to several previous papers reporting a short stature, our patient was tall with a 1 year advanced skeletal age. In this paper, we compare growth and clinical features of this patient with previously reported cases, with a similar interstitial deletion on the long arm of chromosome 13.     

Prenatal diagnosis of de novo interstitial 2q14.2-2q21.3 deletion assisted by array-based comparative genomic hybridization: a case report

BACKGROUND: During conventional karyotyping, it can be difficult to clearly identify de novo interstitial deletion of a chromosomal band when there are similar bands nearby. CASE: A 38-year-old, pregnant woman underwent genetic amniocentesis at 18 weeks of gestation due to advanced maternal age. Chromosomal studies detected an interstitial deletion at the long arm of 1 chromosome 2. Array-based comparative genomic hybridization further located the deletion in the band of interstitial 2q14.2-2q21.3. Prenatal ultrasound revealed borderline ventriculomegaly without additional abnormalities of the cardiovascular, urinary or gastrointestinal systems or the spine. Fetal magnetic resonance imaging identified mild dilatation of the posterior horns of the lateral ventricles. At 5 months after birth, the infant had febrile convulsions that were well controlled with medication. A single incisor was noted at 1 year of age. Atrophy of the left, undescended testis and developmental delay were also noted. CONCLUSION: Array-based comparative genomic hybridization is helpful in prenatal diagnosis because it can precisely locate the chromosome bands with copy number changes. Clinical manifestations in this case provide valuable information for genetic counseling pregnant women who conceive a fetus with deletion of interstitial 2q14.2-2q21.3.     

Sudden fetal death associated with both duodenal atresia and umbilical cord ulcer: a case report and review

We encountered one case of duodenal atresia complicated by massive intrauterine hemorrhage due to the perforation of an umbilical cord ulceration (UCU). UCU is an extremely rare complication in the perinatal period. Although the prenatal diagnosis of upper intestinal atresia has been established, little is known about the association between UCU and upper intestinal atresia. In this article, we report our case, review past articles, and discuss the underlying pathophysiological mechanisms of the cause of an UCU. Given the characteristic sites of upper intestinal atresia, we speculate that regurgitation of gastric or intestinal juice into the amniotic fluid could be responsible for the development of UCU. We also believe that close observation is required for patients who have upper intestinal atresia.     

Comparative genomic hybridization-assisted prenatal diagnosis of a de novo inverted duplication of chromosome 10q. A case report

BACKGROUND: Comparative genomic hybridization (CGH) can detect chromosomal imbalance using genomic DNA extracted from tissue without culture and or metaphase spread preparation. It remains a powerful adjunct to conventional karyotyping to help solve clinical cytogenetic cases of intricate unbalanced aberrations. CASE: A 30-year-old, pregnant woman underwent amniocentesis at 16 weeks of gestational age. She had received radioiodine treatment for thyroid disease 4 years earlier and had delivered a healthy infant after treatment. Conventional chromosomal analysis from cultured amniotic fluid cells revealed additional material added to the end of the long arm of 1 chromosome 10. With the aid of CGH, a cytogenetic diagnosis of 46, XY, inv dup(10)(q26q22) was made. CONCLUSION: Though little evidence exists that genetic change on meiosis of oocytes could result from radioiodine treatment, attention should still be paid to pregnant women who have received it. In the case of doubtful results on conventional cytogenetic studies, comparative genomic hybridization could play a role.     

Umbilical cord ulcer associated with fetal jejunal atresia: report of 2 cases

We report 2 cases of umbilical cord ulcer associated with fetal jejunal atresia. Both of them developed a severe intrauterine hemorrhage, followed by fetal heart rate decelerations, and underwent emergency cesarean section. Bloody amniotic fluid and umbilical cord ulcers were observed in both cases. Although both cases were successfully resuscitated, neurological impairment and renal failure developed in 1 case due to prolonged asphyxia. In a review of the literature, umbilical cord ulcer was associated only with congenital duodenal atresia or jejunal atresia, but not with ileal atresia. Although the prenatal diagnosis of duodenal or upper jejunal atresia has been established, the prenatal diagnosis of this complication has not been reported. In such cases, detailed examination of the umbilical cord by ultrasonography may be useful for the prenatal diagnosis of this disease.     

Terminal deletion of chromosome 15q26.1: case report and brief literature review.

Terminal deletions of chromosome 15q are rare events, with only six cases previously described. Here we describe a seventh case of a terminal deletion of the long arm of chromosome 15, with the present case exhibiting clinical features not previously described.     

Interstitial deletion of 13q22-->q31: case report and review of the literature

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 cases.     

Umbilical cord rupture: a case report and review of literature

The umbilical cord acts as a mechanical conduit between the fetus and placenta, allowing movement of water and nutrient substances between the fetal circulation and the amniotic fluid. Complications can occur antenatally or intranatally and are usually acute events that require immediate delivery to prevent intrauterine death. Even though the majority of the cord complications are unpreventable, significant improvement in perinatal mortality and morbidity can be achieved if such an event can be predicted. Umbilical cord rupture is not uncommon, but significantly underreported. We present an unusual cause of umbilical cord rupture and a review of literature.     

Umbilical cord rupture and vasa previa: a report of a case

Vasa previa is a rare condition, frequently lethal, in which fetal blood vessels coming from the placenta or the umbilical cord cross the entrance of the childbirth channel before presentation. The abnormal blood vessels are result of a velamentous cord insertion or a placental alteration. It happens in 1:3000 births, with a high perinatal mortality. A 16 years-old primigest patient, at 34.6 week of gestation, was admitted to the labor, which has a good evolution, without any complication. A male new born was obtained without hearth rate or vitality, Apgar scale 0-0, weight 2800 grams, who presented an umbilical cord rupture 3 centimeters from its abdominal insertion, no where the fetal blood vessels are unprotected. It is necessary an adequate prenatal care, diagnosis and accurate management, to avoid the mortality by this rare clinical entity.     

Prenatal diagnosis of primary anophthalmia with a 3q27 interstitial deletion involving SOX2

We report an interstitial deletion of chromosome 3q26-q28 in a fetus in which anophthalmia had been detected prenatally. FISH analysis, using BAC clones encompassing the SOX2 locus, showed that SOX2 gene was involved in the chromosomal breakpoint of the deletion. This case confirms that haploinsufficiency for SOX2 plays a crucial role in human eye development and emphasizes the necessity of careful chromosomal analysis, including FISH analysis of the 3q region, in case of prenatal discovery of anophthalmia.     

Patient with novel interstitial deletion of chromosome 3q13.1q13.3 and agenesis of the corpus callosum

Interstitial deletions of the proximal long arm of chromosome 3 are rare. Only eight previously reported patients have deletions involving the proximal segment of 3q. Of these patients, three had agenesis of the corpus callosum and one had holoprosencephaly. We report here a patient with a small unique interstitial deletion of the long arm of chromosome 3 spanning 3q13.1q13.3. This patient has agenesis of the corpus callosum, global developmental delay, and distinctive facial features of a small nose, anteverted nares, and broad nasal root. Our patient provides further evidence that a gene involved in corpus callosum development or neuronal migration may reside in this region.     

Pregnancy outcome following prenatal diagnosis of an isodicentric X chromosome: first case report

An isodicentric X chromosome, idic (X)(q27) was found in a female fetus during cytogenetic studies performed on amniotic cells due to advanced maternal age. No mosaicism was observed. Although segmental inversion duplications have been described for several other chromosomes, isodicentric chromosomes are reported only for gonosomes. Genetic counselling was based on ultrasound findings, cytogenetic replication studies and published cases of X chromosomes duplications ascertained pre- and postnatally. The pregnancy resulted in the birth of a healthy female infant.     

A prenatal diagnosis of umbilical cord oedema made by ultrasound; a case report

A case of marked oedema of the umbilical cord is described associated with premature onset of labour. The diagnosis was made by ultrasound at 33 weeks gestational age. There were no other malformations of the fetus, cord or placenta.