The diagnosis of alobar holoprosencephaly was based on the fusion of the anterior horns of the lateral ventricles and the absence of the butterfly sign in a cross‐sectional view of the fetal brain9. However, this defect was reported in 27% of 6 weeks’ gestation, transabdominal ultrasound exami- 181 fetuses with trisomy 13 at 11–13 weeks of gestation1 . Chromosomal analysis showed trisomy 13 in 2 cases and a ring chromosome 13 in the other. Blaas H-GK, Eik-Nes SH, Vainio T, et al. Because in normal development exomphalos containing bowel only is observed in all fetuses at 8 weeks of gestation and subsequently resolves by 11 weeks, persistence at 11–13 weeks can be considered to be a delay in the recovery of physiological herniation of the bowel and such delay is more common in aneuploid than euploid fetuses. Biparietal diameter (BPD) measurement in a 12‐week fetus with holoprosencephaly and associated brachycephaly. Lobar holoprosencephaly is detectable at >18 weeks’ gestation, but the other three types can be detected at the 11-13 weeks scan. Holoprosencephaly is a congenital Induction disorder of the brain occurring at 3-6 At 16 weeks, the diagnosis of acrania and holoprosencephaly with cyclops was made and these findings were confirmed at postmortem examination … The most common abnormal ultrasonographic findings were holoprosencephaly (46.7%), and facial defects (40.0%). Alobar holoprosencephaly is a subtype of holoprosencephaly (HPE), and is the most severe of the classical three subtypes, with both semilobar and lobar holoprosencephaly having less severe clinical manifestations. The diagnosis of holoprosencephaly, exomphalos or megacystis should constitute an indication for offering to the parents the option of fetal karyotyping. Published by John Wiley & Sons, Ltd. A beneficial side effect of screening for trisomy 21 at 11–13 weeks of gestation is the early diagnosis of major fetal defects such as holoprosencephaly, exomphalos and megacystis. As part of a prospective screening study for trisomy 21 in singleton pregnancies at 11 + 0 to 13 + 6 weeks' gestation, transabdominal ultrasound examination was performed to diagnose holoprosencephaly, exomphalos and megacystis. In our study, the prevalence of exomphalos containing only bowel varied between 1 in 98 and 1 in 2073, according to the CRL and in cases containing liver it was 1 in 3360. There were 59 euploid fetuses with exomphalos containing only bowel. nation was performed to diagnose holoprosencephaly, At 11–13 weeks of gestation, fetal megacystis is … Learn more. An important advantage of this examination is the possibility of an early examination of the fetal anatomy for major structural defects.46. Se continuar holoprosencefaliq navegar, consideramos que aceita o seu uso. Nichtinvasive PränataldiagnostikNon-invasive prenatal diagnostics. Biparietal Diameter–to–Crown‐Rump Length Disproportion in First‐Trimester Fetuses With Holoprosencephaly. Methods Three-dimensional (3D) ultrasound was used to measure the height and gap between the frontal bones in 200 normal fetuses and in nine fetuses with holoprosencephaly at 11 + 0to13+ 6 (median, 12) weeks of gestation. First-trimester ultrasound screening for fetal malformations. The fetal karyotype was normal in 24 (68.6%) cases and abnormal in 11 (31.4%) cases, including six with trisomy 13 and four with trisomy 18 (Table 2). Number of times cited according to CrossRef: Prenatal diagnosis and molecular cytogenetic characterization of mosaicism for r(13), monosomy 13 and idic r(13) by amniocentesis. In three cases there was spontaneous miscarriage and in another three the pregnancies were terminated because of large fetal NT and generalized hydrops. The early embryonic occurrence may be even higher but may not be detected due to most fetuses aborting in early gestation. When the anatomy of the three types of holoprosencephaly is reviewed, lobar holoprosencephaly always shows fusion, CASE REPORT A 29-year-old woman, gravida 3 para 1, underwent her first prenatal ultrasound examination at 12 weeks of gestation and it was described as normal. Sonographic Development of the Pericallosal Vascularization in the First and Early Second Trimester of Pregnancy. The Use of a High Frequency Linear Transducer in the Assessment of Fetal Anatomy at the Routine 11 to 13 + 6-Week Scan among Chinese Population. When all three algorithms are used the estimated detection rates of trisomies 21, 18 and 13 are 91%, 97%, and 94%, respectively, for an overall false‐positive rate of 3.1%6. Prenatal Diagnosis of Alobar Holoprosencephaly with Cystic Hygroma. The fetal karyotype was normal in 15 (34.1%) and abnormal in 29 (65.9%), including 25 cases of trisomy 13 (Table 2). The study was supported by a grant from The Fetal Medicine Foundation (UK Charity no. The condition can be mild or severe. It is therefore likely that in the majority of fetuses with megacystis there is no underlying urethral obstruction but a temporary malfunction of the bladder during a critical stage in its development19. 1037116). We estimated the risk for trisomy 21, trisomy 18 and trisomy 13 by the combined test based on maternal age, fetal NT, FHR, free β‐hCG and PAPP‐A, and used the sum of all three risks to calculate detection and false‐positive rates by taking the proportions with risks above a given risk threshold.6. Current Opinion in Obstetrics and Gynecology. A search of the database was performed to identify all singleton pregnancies in which first‐trimester combined screening was carried out from July 1999 to April 2007. suture in fetuses with holoprosencephaly at 11 +0to 13 +6 weeks of gestation. ... AIUM Practice Parameter for the Performance of Detailed Diagnostic Obstetric Ultrasound Examinations Between 12 Weeks 0 Days and 13 Weeks 6 Days, Journal of Ultrasound in Medicine, 10.1002/jum.15477, 0, 0, (undefined). The characteristics of the study population are summarized in Table 1. Indeed, a series of 15 fetuses with trisomy 13 scanned at 16 to 22 weeks' gestation showed that 7 (47%) had holoprosencephaly.13 In another series involving 33 fetuses with trisomy 13 scanned in the second and third trimesters, 13 (39%) had holoprosencephaly.14 In our series, 3 cases of holoprosencephaly were detected in the first trimester, and all were associated with abnormalities of chromosome 13: trisomy 13 in 2 and a ring chromosome 13 in the other. Learn about our remote access options, Fetal Medicine Center, Department of Obstetrics and Gynecology, Clinica Las Condes, Santiago, Chile, Cytogenetics Laboratory, Clinica Las Condes, Santiago, Chile. Transabdominal ultrasound examination was performed to diagnose any major fetal defects and to measure the fetal crown–rump length (CRL), NT thickness and FHR. reported on a postnatal prevalence of exomphalos of 1 in 300012. Biparietal diameter at 11 to 13 weeks' gestation in fetuses with holoprosencephaly. In recent years, there has been an increasing interest in the early diagnosis of fetal anomalies. Why 12-13 weeks? A study of 35 fetuses with holoprosencephaly compared the accuracy of the diagnosis between ultrasound and in utero MRI. Impact of holoprosencephaly, exomphalos, megacystis and increased nuchal translucency on first‐trimester screening for chromosomal abnormalities. Systematic identification of the butterfly sign at the time of sonographic assessment of nuchal translucency provides a valuable tool for the early screening of holoprosencephaly. Nuchal translucency thickness was normal in 2 fetuses and abnormally increased in the other (cystic hygroma). Metopic suture in fetuses with holoprosencephaly at 11 + 0 to 13 + 6 weeks of gestation. However, this defect was reported in 27% of 181 fetuses with trisomy 13 at 11–13 weeks of gestation1. Following diagnosis of holoprosencephaly alobar at the 18+0 − 20+6 weeks’ fetal anomaly ultrasound scan, a second medical opinion should be sought. Growth, physical assessment, medical histories, survival, and recurrence risk, Smooth muscle in the wall of the developing human urinary bladder and urethra. Objective. They can be easily identified by sonography, which can provide an important landmark for normalcy of the fetal brain at this early gestational age. Lobar holoprosencephaly is detectable at >18 weeks’ gestation, but the other three types can be detected at the 11-13 weeks scan. Approach to the sonographic evaluation of fetal ventriculomegaly at 11 to 14 weeks gestation. Ultraschalldiagnostik in Geburtshilfe und Gynäkologie. First trimester screening for holoprosencephaly with choroid plexus morphology (‘butterfly’ sign) and biparietal diameter. All three defects are associated with chromosomal abnormalities, especially with trisomies 18 and 13. Why not 10 weeks? The high risk of recurrence of holoprosencephaly in euploid fetuses is caused by the common association with several genetic syndromes, including Pallister Hall, Smith‐Lemli–Opitz and CHARGE syndrome16-18. We have recently reported on the development of specific algorithms for first‐trimester screening for trisomy 21, trisomy 18 and trisomy 13, based on the combination of maternal age, fetal nuchal translucency (NT) thickness, fetal heart rate (FHR), maternal serum‐free β‐human chorionic gonadotropin (hCG) and pregnancy‐associated plasma protein‐A (PAPP‐A). Please check your email for instructions on resetting your password. Methods. Mikrozephalie im zweiten TrimenonMicrocephaly in the second trimester. Fetal Anatomic Imaging Between 11 and 14 Weeks Gestation. Journal of Diagnostic Medical Sonography. Because the choroid plexus is narrow in its medial portion and prominent at both the frontal and caudal ends, the apposition of both choroid plexuses in the midline at this particular gestational age produces a characteristic appearance resembling a butterfly (Figure 1). If you do not receive an email within 10 minutes, your email address may not be registered, Introduction: Holoprosencephaly is a complex human brain malformation, which can result from incomplete cleavage of the prosencephalon into right and left hemispheres, occulting between the 18 th and the 28 day of gestational age. Cross‐sectional view of the fetal brain at 11 weeks 5 days' menstrual age showing the characteristic butterfly appearance of the choroid plexuses. This was a prospective screening study for trisomy 21 in singleton pregnancies, using a combination of maternal age, fetal NT thickness and maternal serum‐free β‐hCG and PAPP‐A in a one‐stop‐clinic for first‐trimester assessment of risk (OSCAR) at 11 + 0 to 13 + 6 weeks of gestation7, 8. The outcome for fetuses with holoprosencephaly is fatal and only a few children survive the neonatal period, all of whom have a major developmental disability. During the study period, 378 women considered at risk for chromosomal defects underwent first‐trimester CVS at a median gestational age of 12 weeks (range, 11–14 weeks). Neuroimaging advances in holoprosencephaly: Refining the spectrum of the midline malformation. Although the prenatal diagnosis of holoprosencephaly in the first trimester has been reported by several authors,710 to our knowledge, no reports on the systematic evaluation of the choroid plexuses for the screening of holoprosencephaly have been described thus far. Ultrasound of the Fetus During the First Trimester. Learn more. Prenatal karyotyping revealed trisomy 13 in 2 cases and a ring chromosome 13 in the other. A high proportion of fetuses with holoprosencephaly, exomphalos and megacystis diagnosed at 11–13 weeks of gestation are aneuploid, but in the majority of cases exomphalos and megacystis represent temporary abnormalities that resolve spontaneously. Monosomy 18p Presenting With Holoprosencephaly and Increased Nuchal Translucency in the First Trimester. European Journal of Paediatric Neurology. Yearbook of Neonatal and Perinatal Medicine. Combined screening test for trisomy 21 – is it as efficient as we believe?. Megacystis was defined as enlarged bladder with a diameter of ≥ 7 mm3. The aims of this screening study involving 57 119 singleton pregnancies were, first, to determine the prevalence of holoprosencephaly, exomphalos and megacystis at 11–13 weeks of gestation, second, to compare the estimated risk for trisomies 21, 18 and 13 in the chromosomally abnormal and euploid fetuses with these defects, and, third, to determine the outcome of affected pregnancies. Outcome of fetal exomphalos diagnosed at 11–14 weeks of gestation. A study from a population‐based register of congenital abnormalities, involving 531 686 births between 1985 and 1998, estimated that the prevalence of holoprosencephaly in second‐trimester pregnancies is about 1 in 8000, which is six times lower than in our study14. Because the prevalence of these defects is < 0.1%, the effect on the overall proportion of pregnancies requiring an invasive test would be minimal. and you may need to create a new Wiley Online Library account. Thus, our study population consisted of 57 119 pregnancies: 56 376 pregnancies with a normal karyotype or delivery of a phenotypically normal baby (unaffected group), 395 cases of trisomy 21, 122 cases of trisomy 18, 61 cases of trisomy 13, 38 cases with Turner syndrome and 127 cases with other chromosomal abnormalities. If you do not receive an email within 10 minutes, your email address may not be registered, Both pregnancies associated with trisomy 13 were terminated abroad. Among them, early prenatal diagnosis of holoprosencephaly is a desirable clinical goal because this condition is associated with several chromosomal defects, mainly trisomy 13, trisomy 18, and triploidy.1 Even in fetuses with a normal karyotype, the detection of holoprosencephaly is important because this major brain anomaly is associated with an almost uniformly lethal outcome or, in the few survivors, with profound neurodevelopmental delay. Holoprosencephaly (HPE) is commonly associated with facial malformations. In a low‐risk population, the first‐trimester diagnosis of holoprosencephaly may be elusive if a systematic review of the fetal brain is not performed. Author information: (1)Harris Birthright Research Centre for Fetal Medicine, King's College Hospital Medical School, London, UK. Three fetuses had a diagnosis of holoprosencephaly at gestational ages ranging from 12 weeks 4 days to 13 weeks 5 days. GA indicates gestational age; MA, maternal age; and NT, nuchal translucency. Intrauterine vesicoamniotic shunting for fetal megacystis. Twining's Textbook of Fetal Abnormalities. Challenges in the diagnosis of fetal non‐chromosomal abnormalities at 11–13 weeks. To determine the prevalence and outcome of fetuses with holoprosencephaly, exomphalos and megacystis diagnosed at 11–13 weeks of gestation. There are no screening studies reporting on the prevalence of holoprosencephaly in the first trimester of pregnancy. Focused examination of the fetal brain in these cases showed the characteristic intracranial sonographic findings associated with holoprosencephaly, including a monoventricular cavity with an absent midline and fused thalami. There were eight euploid fetuses with exomphalos containing liver, and in the four where the parents chose to continue with the pregnancy the condition persisted until delivery. There were 9 false negative in utero MRI findings. 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