Prenatal diagnosis in monozygotic twins with Down syndrome who had different phenotypes

We report the case of monozygotic (MZ) male twin fetuses with different Down syndrome (DS) phenotypes. Prenatal fetal sonography showed a bichorial biamniotic pregnancy with increased nuchal translucency in twin A and a cervical cystic hygroma and heart defect in twin B. Cytogenetic analysis performed after double amniocentesis showed free and homogeneous trisomy 21 in both twins. Monozygosity was confirmed by molecular analysis. The pregnancy was terminated at 17 weeks of gestation (WG). Postmortem analysis confirmed the phenotypic discordance. To our knowledge, this is the first reported prenatal diagnosis of MZ male twins with different Down syndrome phenotypes but identical karyotypes. We discuss the mechanisms involved in phenotypic discordance of monozygotic twins and particularly the role of environmental factors.     

False-negative prenatal exclusion of Wiskott-Aldrich syndrome by measurement of fetal platelet count and size.

The study of the fetal platelet count and size can, according to the literature, be used for the prenatal diagnosis of the Wiskott-Aldrich syndrome (WAS). So far, no affected fetuses have been identified by this method. All pregnancies in which this method had been applied to resulted, as correctly predicted, in the birth of normal children. Here we report on a familial case of WAS where the haematological parameters failed to reveal the affected second child. Hence we assume that the platelet count and size of platelets remain normal in fetuses with WAS to the gestational age of 22 weeks and cannot be used for prenatal diagnosis.     

Triploidy in a growth discordant twin pregnancy after intracytoplasmic sperm injection treatment. Case report

OBJECTIVE: We report on a case of a triploidy in one fetus of a twin pregnancy who presented with the findings of growth discordance. METHODS: Three weeks' difference between fetuses in ultrasonographic measurements in the first trimester was observed in a twin pregnancy following intracytoplasmic sperm injection (ICSI) treatment for male infertility. Hydrocephaly developed in the growth-discordant fetus subsequently. Amniocentesis for both fetuses and selective feticide for the abnormal one was performed at 19 weeks' gestation through a single insertion. Fetal karyotype of the abnormal one was 69,XXX and the healthy one was 46,XX. CONCLUSION: Early developed growth discordance in a twin pregnancy may be a sign of chromosomal abnormality such as triploidy. Those cases should be karyotyped without delay to decrease preterm delivery risk of possible selective feticide.     

First-trimester embryo size discordance: a predictor of premature birth following multifetal pregnancy reduction

OBJECTIVE: We have previously reported a correlation between the starting number of embryos for multifetal pregnancy reduction (MFPR) and discordance in size during the first trimester. Here we evaluated the correlation between the degree of discordance and length of gestation in the remaining fetuses. DESIGN: Observational clinical series. SETTING: Academic medical center with a single physician who performs a large number of MFPRs. PATIENT(S): Analysis of 252 consecutive MFPRs from a 2.5-year period (1996-1998). INTERVENTION(S): MFPR for patients with multifetal pregnancies. MAIN OUTCOME MEASURE(S): We evaluated the correlation between the degree of discordance in embryo size, as measured by the greatest difference in crown-rump length (CRL) (delta max), and the length of gestation. RESULT(S): Embryo size discordance was related to length of gestation of the remaining fetuses after MFPR. Of 72 patients with a delta max >5 mm, the rate of severe premature birth (delivery at <28 weeks' gestation) was 9.7%, compared with 1.7% for patients with a delta max <5 mm (P<.01). Of patients with severe premature birth, 70% had delta max >5 mm, compared with less than 30% in patients who delivered after 28 weeks (P<.05). CONCLUSION(S): Variations in embryo growth patterns in multifetal pregnancies may be observed even in the first trimester, which may be predictive of late pregnancy outcomes. With a delta max > or =5 mm, there is a significant increase in the risk of severe premature birth (delivery at <28 weeks).     

First trimester twin-to-twin transfusion syndrome in a trichorionic quadruplet pregnancy--a diagnostic challenge

We report the prenatal diagnosis of twin-to-twin transfusion syndrome (TTS) at 11 weeks' gestation. The diagnosis was made in a trichorionic quadruplet pregnancy which was conceived after in vitro fertilization and intracytoplasmic sperm injection for male subfertility and transfer of 3 embryos. Growth discordance, oligo/polyhydramnios and abnormal arterial and venous Doppler flows were demonstrated in 2 monochorionic fetuses, while the remaining 2 dichorionic fetuses were unremarkable. Selective fetocide of the donor by intracardiac injection of potassium chloride was followed by the spontaneous demise of the recipient. The pregnancy course remained uneventful until 32 weeks of gestation when the patient developed preterm labor. Two healthy preterm babies were delivered by cesarean section. The diagnostic problems of this early manifestation of TTS are discussed.     

Size of the fetal adrenal in bilateral renal agenesis

Bilateral renal agenesis is a fetal malformation incompatible with extrauterine life. Accurate prenatal diagnosis is essential for patient counseling. False-negative diagnoses have been reported and were attributed to the sonographic misidentification of apparently hypertrophied fetal adrenal glands as fetal kidneys. To study the relationship between renal agenesis and adrenal size, we reviewed autopsy records from 11 affected fetuses that had undergone careful autopsy and organ weight determination in our laboratory. Anomalies of distant structures were present in five affected fetuses. A sonographic diagnosis of adrenal hypertrophy had been made in two cases. In four of 11 fetuses, the glands had taken on a flattened discoid appearance. The autopsy records of 240 normal fetuses were similarly reviewed, and regression lines were generated for adrenal weight based on foot length and crown-rump length. The adrenal weights from affected fetuses were well within normal limits when compared with these normal regression lines and with organ weight standards from the literature. We conclude that adrenal hypertrophy is not a common finding in this syndrome and that the reported false-negative diagnoses are more likely attributable to a change in adrenal shape rather than a true increase in adrenal mass.     

Prenatal diagnosis and outcome of lymphangiomas and its relationship with fetal chromosomal abnormalities

Objectives: Our aim was to evaluate ultrasound findings and perinatal outcome after prenatal diagnosis of lymphangioma.

Methods: This was a retrospective case series study. We searched the archives of our ultrasound database at our center for cases with the prenatal diagnosis of the lymphangioma in the period between January 2008 and November 2014. We described maternal, fetal and perinatal variables for all cases.

Results: Nine fetuses with lymphangioma were identified. All cases were diagnosed during the second and third trimesters with the average gestational age of 22.6?±?3.9 weeks. The average diameter of lymphangioma was 55.4?±?20.1?mm at the time of diagnosis. Five fetuses (55.6%) had lymphangioma on the neck, and four fetuses (44.4%) had lymphangioma on other localizations. Normal fetal karyotype was detected in all cases. There were a total of six live births, one intrauterine death and two medical terminations of pregnancy following the diagnosis of lymphangioma. No abnormal Doppler finding or hydrops were detected in the antenatal follow-up of remaining six cases.

Conclusion: The risk of chromosomal abnormalities is very low in pregnancies with isolated lymphangioma. The outcome of pregnancies with lymphangioma is generally favorable and prognosis depends on their locations and size.     

Early prenatal diagnosis of the fragile site at Xq27.3 associated with Martin-Bell syndrome.

Early prenatal diagnosis of the fragile X was attempted in 44 pregnancies, including one twin pregnancy at risk of Martin-Bell (MB) syndrome. The sex ratio was 24M:21F. The fragile site was reproducibly demonstrated in cultured chorionic villus (CV) cells in eight male and five female fetuses. Six of the male and three of the female fetuses were terminated. Simultaneous RFLP analysis provided confirmative data with flanking DNA markers in 3 of 13 analysed cases. Recombination and/or non-informativeness at available distal and/or proximal loci were found in nine cases. In one male fetus, discordance between the haplotype and cytogenetics (fragile-X-negative) suggested the presence of a normal male transmitter, a double meiotic cross-over within the region, or a false-negative cytogenetic diagnosis. However, discordance between prenatal and post-termination/postnatal cytogenetic findings was not observed in this series. The use of excess thymidine for induction of the fragile X in cultured CV cells provided in the majority of cases a safe and rapid method for cytogenetic diagnosis, with options for early induced termination in fragile-X-positive pregnancies, for simultaneous RFLP analysis, and for subsequent second-trimester analysis of fetal blood in complicated cases.     

Giant cervical polyp: a case report and review of a rare entity

BACKGROUND: If cervical polyps are a common pathology in the female adult population, giant cervical polyps with a size greater than 4 cm are rare and until now only several cases have been described in literature. The size and the clinical presentation can mimic a cervical neoplasia. The management is surgical and can be conservative regarding to the benign pathological feature of this entity. CASE REPORT: We report the case of a giant cervical polyp of 5.5 cm occurring in a multiparous 47-year-old woman who clinically presented vaginal bleeding. The lesion was resected by electrosurgery with no recurrence 7 months after surgery. CONCLUSION: The diagnosis, management and outcome of this rare entity had been reviewed according to the literature.     

Suspected big baby: a difficult clinical problem in obstetrics

BACKGROUND: Large for gestational age fetuses, also called macrosomic fetuses, represent a continuing challenge in obstetrics. METHODS: We review various problems with large for gestational age fetuses. We have performed a literature search, mainly through the database PubMed (includes the Medline database). The clinical problem is discussed from the primary care provider's, the patient's and the obstetrician's point of view. RESULTS: Macrosomia is arbitrarily defined as having a fetal weight of above the 90th percentile, a birth weight of above 4000 g or 4500 g, or a birth weight of over +2 standard deviation of the mean birth weight by gestational age. The diagnosis of macrosomia is difficult, both by palpation and symphysis fundus measurement; even with sophisticated sonographic measures. The combination of biparietal diameter, femur length and abdominal circumference appears to be no better than abdominal circumference alone. INTERPRETATION: Based on the literature, labor should not be induced in nondiabetic pregnancies. The best policy is to await spontaneous birth or to induce labor after 42 weeks completion. A great number of cesarean sections have to be performed to avoid a single case of plexus brachialis paresis resulting from a difficult shoulder delivery. Cesarean section should not be considered in nondiabetic pregnancies unless the estimated fetal weight is above 5000 g. In pregnancies complicated by diabetes mellitus there are reasons for selective induction of labor if macrosomia is suspected and for cesarean section if the calculated birth weight is above 4000 g. Each department should have a strategy to handle such a situation because the problem with the difficult shoulder delivery cannot be completely avoided. Different procedures of managing difficult shoulder delivery are described.     

Prenatal diagnosis of dilated cavum septum pellucidum et vergae

The cavum septum pellucidum is a fluid-filled cavity located between the membranes of the septi pellucidi, which should always be visualized sonographically in normal fetuses between 18 and 37 weeks gestation and in approximately 50% of term infants. The cavum vergae, a cavity within the septum pellucidum, is located posterior to an arbitrary vertical plane formed by the columns of the fornix. We present a case in which markedly dilated cavum septum pellucidum et vergae noted at 29 weeks gestation was associated with midgut malrotation and volvulus, and review the literature pertaining to this unusual prenatal ultrasonographic diagnosis.     

Fetal sex discordance

Fetal sex discordance is an entity that is becoming more frequent due to the expansion of the cfDNA for prenatal diagnosis. Its incidence can be estimated in 1/1500–2000 pregnancies, a frequency as high as that of some common chromosomopathies. The causes of this phenomenon are multiple and diverse, ranging from laboratory errors to important pathologies such as disorders of sexual differentiation. The management of a case of fetal sex discordance must be structured, starting with the review of the clinical history and the tests performed, and may require the performance of invasive tests to reach a diagnosis. Prevention through adequate pretest counseling and ultrasound confirmation can help to reduce its incidence.     

Third trimester ultrasonic presentation of infantile polycystic kidney disease

Infantile polycystic kidney disease (Potter's Type 1) is an autosomal recessive disorder that affects the kidneys and liver. Use of ultrasound to make the diagnosis prenatally is well documented and, in fact, it is advocated as a screening device for second-trimester identification of potentially affected fetuses. The sonographic appearance is characterized by enlarged hyperechoic kidneys, enlarging fetal abdominal circumference, and oligohydramnios. It is suggested that a ratio of the kidney circumference to the abdominal circumference (KC/AC) be used as method of quantifying renal size and as a potential indicator of early kidney enlargement associated with infantile polycystic kidney disease (IPKD). We report a case of serial ultrasound examination of a pregnancy at risk for IPKD where the in utero diagnosis was not established until the third trimester.     

Síndrome obstructivo congénito de las vías aéreas altas (síndrome de CHAOS). Causa infrecuente de hídrops fetal

Congenital high airway obstruction syndrome (CHAOS) is an uncommon malformation. Prenatal diagnosis of this malformation by ultrasound has previously been described. Prenatal identification will allow us to offer patients the possibility of prenatal counseling and to substantially improve perinatal outcomes in comparison with those in fetuses without a prenatal diagnosis, in which emergency maneuvers must be performed with unpredictable results. Currently, most of the cases described in the literature correspond to pregnancies with a prenatal diagnosis, which has allowed cesarean section to be successfully performed with the EXIT procedure (ex utero intrapartum treatment). Excellent results have sometimes been obtained.     

Thoraco-omphalopagus conjoined twins detected at as early as 9 weeks of gestation: transvaginal two-dimensional ultrasound, color Doppler and fetoplacental Doppler velocity waveform findings

Here we report a case of conjoined twins that were diagnosed antenatally by routine two-dimensional transvaginal ultrasound examination at as early as the 9th week of gestational age. The fetuses were of the thoraco-omphalopagus type and were sharing the liver, as confirmed by color Doppler. There was a reversed flow in the single ductus venosus of the twins. Umbilical arterial and venous blood flow waveform did not show any abnormality for this gestational age. This case demonstrated the possibility of making an accurate diagnosis of conjoined twins in the first trimester by transvaginal two-dimensional ultrasound and color Doppler examination. Although conjoined twins were described at first trimester before, fetoplacental Doppler waveform findings at this gestational age have been described very rarely. This case demonstrated the possibility of making an accurate diagnosis of conjoined twins and delineating the extent of organ sharing in the first trimester, and early diagnosis can help the parents with the option for pregnancy termination. The importance of expert early vaginal sonography and color Doppler findings is emphasized.     

Le diagnostic anténatal d’atrésie bronchique est-il possible ?

Bronchial atresia is a rare congenital malformation of the lung. The main-stem segmental or lobar bronchus fails to construct normally, which can lead to accumulation of mucus within the distal bronchi or lung hyperinflation of the obstructed lobe. The prenatal diagnosis is rare and difficult. We report two cases of fetuses who presented pathological examination of the lung on the ultrasonography, at 22 weeks of gestation, suspect of prenatal bronchial atresia diagnosis. We analysed this malformation through a literature review in order to discuss differential diagnosis to be evoked, as well as appropriate perinatal management.     

Twin birth weight discordance and risk of preterm birth

OBJECTIVES: Our purpose was to determine whether birth weight discordance is a risk factor for preterm birth of twins, and to further characterize the relationships involved.Study Design: Maternally linked 1978-1990 Missouri birth certificates were used to analyze gestations resulting in live twins. We used contingency tables and multiple logistic regression. RESULTS: The degree of discordance correlated strongly with risk for live preterm birth but only for discordances >30% and preterm birth at <32 weeks' gestation. Among 9479 pregnancies with discordance <30%, 9.5% ended in birth at <32 weeks' gestation, versus 13.7% of 326 with discordance of 30% to 40% (P =.03) and versus 34.1% of 126 with discordance > or =40% (P <. 001). There were 42 preterm twin births at <32 weeks' gestation with discordances > or =40%. Of these, 51% were attributable to fetal growth restriction and 16% to large size for gestational age in one infant; in 72% the smaller twin was the second born, and in 86% the twins were like sex. The relative association between > or =40% discordance and preterm birth at <32 weeks' gestation was strengthened (final odds ratio, 9.54; P <.0001) in a multivariate model containing other risk factors for delivery at <32 weeks' gestation: black race, either twin small for gestational age, unmarried, teenage mother, number of male fetuses, like fetal sex, education <12 years, nulliparity, and cigarette smoking. CONCLUSIONS: Twin birth weight discordance has now clearly been demonstrated to be a risk factor for preterm birth. The effect was found particularly with discordances > or =40% before 32 weeks' gestation. Discordance was usually attributable to fetal growth restriction, most often in the second-born twin.     

Útero septo con duplicación cervical: una anomalía mülleriana infrecuente

We describe the case of a rare Müllerian variant (septate uterus with cervical duplication) that was inconsistent with classical embryology. We correctly diagnosed the abnormality using three-dimensional ultrasonography. This is the first time that diagnosis with this technique has been described in the world literature     

Outcome following prenatal diagnosis of complete atrioventricular septal defect

OBJECTIVE: To identify in a case cohort study, overall outcome following prenatal diagnosis of complete AVSD (cAVSD) in a tertiary referral fetal cardiology center. METHOD: We retrospectively reviewed all pregnancies from 1997 to 2004 in which the fetus was identified on ultrasound examination as having a cAVSD. RESULTS: A prenatal diagnosis of cAVSD was made using fetal echocardiography in 99 fetuses. The median (range) gestational age at diagnosis was 23 weeks (17-37). In 41 cases, cAVSD was the sole cardiac lesion. The remaining 58 fetuses had associated additional intracardiac malformations. Prenatal karyotype was obtained in 43 fetuses and was abnormal in 23. Extracardiac anomalies were also identified in 25 fetuses. Following prenatal counseling, 35 couples chose termination. Of the 64 continuing pregnancies, 12 were stillbirths and 4 were lost to follow-up. Of the 48 live births, 16 were neonatal deaths without surgery while 32 babies underwent surgery and 19 have survived to date (follow-up between 2 years 10 months to 9 years 10 months). CONCLUSION: At the time of prenatal diagnosis at a regional fetal medicine center, the overall survival rate for fetuses with cAVSD is 32% (excluding termination and those lost to follow-up). This information has important implication for parents of fetuses with cAVSD and when undergoing prenatal counseling.     

Fetal diagnosis of left ventricular aneurysm of the free wall and the interventricular septum: report of two cases and review of the literature

Two cases of aneurysmatic bulgings of the free left ventricular wall and the interventricular septum, respectively diagnosed in late third trimester pregnancies are described. The diagnosis was confirmed by meticulous echocardiographic examination of the fetuses, who were referred for dysrhythmia. Based on sonographic findings and analysis of the clinical outcome, our previous cases emphasise management options both antenatally and postnatally. We further reviewed the current literature and discussed differences between aneurysmatic lesions with respect to their specific localisation to enhance our understanding of these fetal cardiac anomalies.