Marta Arigita

First‐trimester detection of structural abnormalities and the role of aneuploidy markers

To determine the sensitivity of first‐trimester ultrasound for diagnosing different structural anomalies in chromosomally normal pregnancies, and to establish the role of aneuploidy markers in the detection of abnormalities.

Spina bifida in a 13‐week fetus with a normal intracranial translucency

A 34-year-old Caucasian woman, gravida 0, para 0 was referred at 13 weeks and 2 days to our tertiary center because she requested a chorionic villus sample (CVS) in spite of a 1/6825 estimated risk for Down syndrome at first-trimester combined test. She was on daily 0.4 mg of folic acid, started in the preconceptional period. At the ultrasound scan carried out before CVS, using both the transvaginal and transabdominal route (Siemens Sonoline Antares, Siemens Medical Systems, Malvern, PA, USA), a single fetus was observed with a 71mm crown-rump length (CRL) and a sacroccygeal cyst. A detailed examination in both, axial and mid-sagittal views, showed an interruption of the cutaneous contour at this level. A ‘U’ shape in the affected vertebrae was noted in the axial plane, and lateral processes appeared separated in the coronal view. A spina bifida was suspected. Lack of ultrasound visualization of the fourth ventricle in a midsagital view of a fetal head has been recently described as a new marker of spina bifida at 11–13 weeks and named intracranial translucency (Chaoui et al., 2009; Chaoui and Nicolaides, 2010). For this reason, this new marker was evaluated. The midsaggital view of the fetal head and upper thorax showed a normal sized fourth ventricle (1.8 mm) (Figure 1). The nuchal translucency (1.7 mm), the facial frontomaxillary angle (81◦) and the frontal bones shape presented also with a normal appearance, and no associated anomalies were observed in a careful examination. Other ultrasound markers of poor prognosis, such as increased head circumference, talipes and scoliosis were ruled out. CVS was carried out revealing a normal male karyotype. The couple was counseled about the prognosis for a low lesion (70% survival, and among survivors: 80% have normal IQ, 90% can walk and 45% are continent) and opted for a termination of pregnancy which was performed at 13 weeks and 4 days.

Increased nuchal translucency and normal karyotype: perinatal and pediatric outcomes at 2 years of age

To assess the perinatal and pediatric outcomes up to 2 years of age in singleton karyotypically normal fetuses with increased nuchal translucency (NT) above the 99th percentile.

Chromosomal anomaly spectrum in early pregnancy loss in relation to presence or absence of an embryonic pole

OBJECTIVE To compare the cytogenetic findings in a series of missed miscarriages evaluated by chorionic villus sampling, in relation to embryonic pole presence (embryonic or anembryonic). DESIGN Prospective cross-sectional study. SETTING Tertiary referral hospital. PATIENT(S) Women presenting with a missed miscarriage. INTERVENTION(S) Transcervical chorionic villus sampling and cytogenetic studies in the chorionic villi with use of the semidirect method. MAIN OUTCOME MEASURES(S) Embryonic pole presence or absence assessed by transvaginal ultrasound examination. Type of chromosomal anomalies found in both subgroups. RESULT(S) Although the chromosomal abnormality rate was similar for miscarriages with absent or present embryo (61% vs. 68% respectively), frequencies for viable autosomal trisomies (2.3% vs. 19%) and monosomy X (0% vs. 9.2%) were significantly lower when no embryonic pole was seen. CONCLUSION(S) Viable autosomal trisomies and monosomies X appear not to be a common cause of miscarriage with an early fetal demise (anembryonic miscarriage).

Prevalence and perinatal outcome of dichorionic and monochorionic twins with nuchal translucency above the 99th percentile and normal karyotype

To evaluate the prevalence of and perinatal outcome associated with increased nuchal translucency thickness (NT) > 99th percentile in dichorionic and monochorionic twins with normal karyotype.

Evolution of prenatal detection of neural tube defects in the pregnant population of the city of Barcelona from 1992 to 2006

To assess the prenatal ultrasound detection rates (DR) of neural tube defects (NTDs) and its evolution over the 1992 to 2006 period in the pregnant population of the city of Barcelona.

Chorionic villus sampling in the prenatal diagnosis of placental mesenchymal dysplasia

Placental mesenchymal dysplasia (PMD) is a rare condition presenting with macroscopic features of molar changes, placentomegaly and grape-like vesicles in the placenta, but in contrast to partial mole it can coexist with a normal fetus. Although the karyotype is normal, the fetus is at increased risk for intrauterine growth restriction, perinatal demise, Beckwith–Wiedemann syndrome and liver and skin hemangiomas1–5. Increasing evidence suggests that PMD may originate from a mixed population of androgenetic (paternally-derived genome only) and biparental cells, confined predominantly or exclusively to the placenta6. A 26-year-old Caucasian woman, gravida 2 para 1, was referred to our center at 14 weeks’ gestation on suspicion of a partial mole. An ultrasound scan showed an anterior enlarged placenta with multiple vesicle-like images, suggesting molar degeneration, accompanied by areas of structurally normal placenta (Figure 1). The fetal measurements were consistent with the menstrual age and no structural anomalies were detected. Chorionic villus sampling (CVS) was performed at 14 + 3 weeks and two samples were obtained and sent for genetic analysis and for pathological examination. The histopathology was consistent with a partial hydatidiform mole. Quantitative fluorescent polymerase chain reaction (QF-PCR) of chorionic villi revealed the expected triploid (triallelic) profile, whereas both the semi-direct method and longterm culture showed a normal male karyotype. An amniocentesis was carried out at 15 + 2 weeks confirming a normal karyotype. Normal fetal growth and anatomy were observed at the 20-week scan. At 33 + 5 weeks premature preterm rupture of membranes occurred, and labor was induced 5 days later. A male infant weighing 2190 g was delivered with no obvious dysmorphic features at neonatal examination. At 2.5 years of age, the child was developing normally. After delivery, the placenta was found to be large for gestational age (1702 g) with normal areas coexisting with cystic regions. The chorionic plate vessels were dilated and tortuous, with some of them partly floating in the amniotic cavity (Figure 2). Microscopic examination showed a mixture of normal and abnormal villi. The latter showed stromal cell proliferation with dilated villi and thick-walled vessels (characteristic signs of PMD) but no evidence of trophoblastic hyperplasia (seen in moles). The sample previously obtained by CVS was reviewed and PMD was the final diagnosis. Postnatal QF-PCR investigation was performed in five placental samples – two of which were indicative of placental androgenetic/biparental mosaicism – because of the observed triploid mosaicism Figure 1 Ultrasound image of the placenta with multiple vesicle-like features suggesting molar degeneration, accompanied by areas of structurally normal placenta (calipers) at 14 weeks’ gestation.

Nuchal translucency thickness in the prediction of unbalanced translocations

The aim of this study was to assess the role of nuchal translucency (NT) in the prediction of unbalanced translocation in offspring of couples in which one of the parents is a balanced translocation carrier.

Use of fetal nuchal translucency in the first trimester to predict single‐gene disorders

To assess the predictive value of fetal nuchal translucency (NT) measurement in the prenatal diagnosis of single‐gene disorders.

Unintended pregnancy after gonadal failure chemoprevention with gonadotropin-releasing hormone agonist in women with hematologic malignancies

Many patients who receive co-treatment with GnRH agonists (GnRH-a) during chemotherapy treatment preserve their ovarian function and are at risk of unintended pregnancies. Therefore, it is important to offer them effective contraception. Also, pregnancies occurring after cancer therapy in women who received GnRH-a are not associated with adverse neonatal outcomes.