Zsanett Szigeti

Prenatal diagnosis of Turner syndrome: report on 69 cases.

Objective. This study was conducted to evaluate the diagnostic value of different sonographic signs of fetuses with Turner syndrome in the first and second trimesters of pregnancy. Methods. Between 1990 and 2004, Turner syndrome was found in 69 of 22,150 fetal karyotypings. Congenital anomalies detected by sonography were analyzed. Results. Of the 514 (2.3%; 514/22,150) chromosome aberrations that were diagnosed, 69 Turner syndrome cases were found (13.4%; 69/514). Twenty‐four fetuses had a 45,X karyotype (34.8%), and 45 fetuses were mosaic (65.2%). Forty‐seven fetuses (68.1%; 47/69) showed symptoms on sonography. A substantial proportion of fetuses with Turner syndrome showed early‐onset signs that could be detected in the first trimester (29.8%;14/69). The most common findings with sonography were hygroma colli (26.1%; 18/69), fetal hydrops (11.6%; 8/69), cardiac defects (13%; 9/69), and increased nuchal translucency (13%; 9/69). Among heart defects, coarctation of the aorta was the most common (44.4% of all cardial defects). Soft markers were also detected with relatively high frequency (23.2%; 16/69). Conclusions. The diagnosis of severe Turner syndrome is possible in early pregnancy. A search for soft markers during second‐trimester sonography and extensive use of echocardiography may increase the detection rate of Turner syndrome.

Prenatal Diagnosis of Trisomy 13 Analysis of 28 Cases

Objective. The purpose of this study was to investigate the role of second‐trimester sonographic examination in the prenatal diagnosis of trisomy 13. Methods. Of 22,150 fetal chromosome analyses, 28 fetuses with trisomy 13 were found between 1990 and 2004. Sonographic findings of this aneuploidy were analyzed in this study. Results. The average maternal age was 32.4 years; the average gestational age was 19.5 weeks. There was an 89.3% (n = 25) total prevalence of sonographic abnormalities in fetuses with trisomy 13 in this series. Major (structural) malformations were seen in 23 cases (82.1%), whereas minor anomalies were detected on sonography in 16 cases (57.1%). Although in 2 fetuses 1 minor anomaly was the only sonographic sign of trisomy 13, other cases with minor anomalies (87.5% [n = 14]) were multiplex malformations, in which combinations of major and minor anomalies were detected on sonography. The most frequently seen structural abnormalities were central nervous system and facial anomalies (64.3% [n = 18]). Among central nervous system anomalies, ventriculomegaly and holoprosencephaly were seen most frequently. Cardiovascular anomalies were detected in 53.6% (n = 15) of the fetuses with trisomy 13. This high frequency underlines the importance of echocardiography in diagnosing this aneuploidy. Among minor anomalies, increased nuchal translucency (21.4%) and echogenic bowel (17.9%) were the most common findings. Conclusions. Second‐trimester sonographic examination is capable of showing anomalies that are characteristic of trisomy 13; thus, the scan can indicate whether fetal karyotyping is advisable. Incorporation of careful assessment of the fetal cardiovascular system by sonography certainly increases the detection rate of trisomy 13.

Ultrasonographic Findings of Fetal Aneuploidies in the Second Trimester – Our Experiences

Objectives: The aim of this study was to determine the incidence of ultrasound findings in common fetal chromosomal defects on a relatively large series coming out from one institution. We also tried to evaluate possible clusters of ultrasound signs of major chromosomal defects. Methods: Of the 22,150 fetal karyotypings, 514 abnormal karyotypes (2.3%) were diagnosed prenatally between 1990 and 2004. Of them, 374 were further evaluated for abnormal ultrasound signs in this study. These represented the major chromosomal defects of Down syndrome (n = 207), trisomy 18 (n = 70), trisomy 13 (n = 28) and Turner syndrome (n = 69). Results: The incidences of major structural defects and minor anomalies were evaluated then sonographic signs with the highest incidences were established in each of the major chromosomal defects. In fetuses with trisomy 13, besides cardiac defects, the most frequently seen structural abnormalities were central nervous system anomalies and facial anomalies. In fetuses with trisomy 18 and trisomy 21, cardiac anomalies were the most common structural sonographic features, whereas the most common findings were hygroma colli and fetal hydrops in fetuses with Turner syndrome. As far as minor anomalies are concerned, increased nuchal fold was the most predictive marker of each major aneuploidy. Choroid plexus cysts were more common in trisomy 18, whereas echogenic intracardiac foci were more frequently detected in fetuses with trisomy 13 and trisomy 21. Conclusion: This study may help to select the most predictive components of the genetic sonogram which may assist the counseling of women for the actual risk of the major chromosomal abnormalities.

Etiology, prenatal diagnostics and outcome of ventriculomegaly in 230 cases.

Objective: The aim of this study was to review and summarize the information regarding the etiology, diagnostics and outcome of ventriculomegaly. Methods: The study included 230 cases of ventriculomegaly examined between 1979 and 2000. The main diagnostic criterion for ventriculomegaly was the transverse diameter of the ventricular atrium at the level of the glomus of the chorioid plexus measuring >10 mm, irrespective of gestational age. Results: Gender distribution (male:female ratio: 0.98) coincided with that of the general population. In 32% of the cases (72/230), the history was positive; 6% (12/230) had a positive genetic history, while 26% (60/230) were associated with pathological obstetric events. The incidence rate of ventriculomegaly in the patients’ history was found to be 2.61% (6/230). In nearly 60% of the cases included in this study, ventriculomegaly was diagnosed before the 24th week of pregnancy. Fresh fetal infection confirmed by Toxoplasma PCR real-time examination was diagnosed only in cases of severe ventriculomegaly. Based on the measurement of the diameter of the atrium of the lateral ventricle, severe and mild ventriculomegaly was diagnosed in 142/230 (61.7%) and 88/230 cases (38.3%), respectively. Termination of pregnancy was significantly more frequent in cases of severe than of mild ventriculomegaly (92 vs. 66%). Conclusions: The importance of positive obstetric and/or genetic history should be emphasized as it is in direct relationship with the increased incidence of this malformation. Regarding the practice of ultrasonography, mild ventriculomegaly (transverse diameter of the lateral ventricle <15 mm) has a much better prognosis than the severe form (transverse diameter of the lateral ventricle >15 mm) of the malformation. Based on the ultrasonographic diagnosis of ventriculomegaly, TORCH serological examination is also recommended since treating toxoplasmosis by medication may have a promising prognosis for the pregnancy. In cases of isolated ventriculomegaly alone, intrauterine karyotyping is not necessarily indicated, but in cases where ventriculomegaly is associated with other genetic disorders karyotyping should definitely be performed. Since ventriculomegaly is not incompatible with postnatal life by itself, the decision about the fate of the pregnancy is largely dependent on the presence of other organic disorders.

Correlation of Prenatal Sonographic Diagnosis and Morphologic Findings of Fetal Autopsy in Fetuses With Trisomy 21

The purpose of this study was to compare the prenatal sonographic and postmortem pathologic findings of fetuses with trisomy 21.

Major Diagnostic and Pathological Features of Iniencephaly Based on Twenty-Four Cases

Iniencephaly is quite a rare malformation the etiology of which is still not fully understood. In the majority of cases it is a grave and lethal condition. It is often complicated by other abnormalities affecting the central nervous system (spina bifida, anencephaly), but malformations involving other organs and systems may also be observed. Based on 24 cases the authors have surveyed the diagnostics of iniencephaly with special regard to the disorders affecting the central and non-central nervous systems. In addition, they have compared the results of prenatal diagnostics and pathological investigations. In the sample, maternal age ranged between 17 and 42 (median 24) years. Positive obstetrical-gynecological and genetic findings in the patients’ history have been reported in 4 and 2 cases, respectively. In these cases, the maternal serum α-fetoprotein (AFP) values ranged between 0.7 and 3.9 (median 2.0) MoM, while the amniotic fluid AFP values were between 0.9 and 2.7 (median 1.4) MoM. Spina bifida (50%) and anencephaly (42%) were the most commonly occurring complications affecting the central nervous system. Among the non-central nervous system disorders, malformations of the abdominal (omphalocele) and thoracic walls (diaphragmatic hernia) were found most frequently and the tendency to develop associated polyhydramnios was also very high (75%). Pathological investigations revealed developmental disorders such as cleft lip and palate, ventricular septal defect and facial dysmorphism, which are difficult to detect using ultrasonography.

Follow-up analysis of pregnancies complicated by HELLP syndrome.

Aim: In this study, we investigated the course of subsequent pregnancies in patients with HELLP syndrome and the development of chronic maternal diseases. Results: The study population consisted of 50 patients who were treated for HELLP syndrome at 1st Department of Obstetrics and Gynecology, Semmelweis University between January 1, 1995 and December 31, 2004. There were 35 subsequent pregnancies in 25 patients. Of these there were seven miscarriages, one mid-trimester loss. The incidence of premature birth was 40.7%, and neonatal mortality 7.4%. Preeclampsia recurred in twelve pregnancies; it was mild in eight and severe in four cases. HELLP syndrome re-occurred four times in three patients (14.28%). Recurrent hypertension was observed in 24% of the pregnancies. Conclusions: Pregnancies after a previous pregnancy complicated by HELLP syndrome carry not only an increased chance for HELLP syndrome but also the development of other pathological obstetric conditions and chronic maternal diseases. Hypertension was found to be a maternal disease of increased incidence (24%) in subsequent pregnancies.

Prenatal Diagnosis, Phenotypic and Obstetric Characteristics of Holoprosencephaly

The diagnosis of fetal malformations, especially those of the central nervous system, is strikingly important in the practice of genetic counseling. Early diagnosis is very significant, not only because of the prognosis, but also because of the emotional effects caused by the accompanying craniofacial malformations. The summary of the obstetrical and diagnostical characteristics should be useful in the management of holoprosencephaly. The analysis of the 50 cases we encountered between 1981 and 2000, including the anatomical, diagnostic and clinical aspects, as well as the associated craniofacial malformations, forms the essence of our publication. In one of the examined cases a familiar recurrence was verified.

Az arteria pulmonalis billentyûjének agenesiája - tíz, praenatálisan diagnosztizált eset elemzése és irodalmi áttekintés

Celkitűzes: Tiz, praenatalisan diagnosztizalt pulmonalis billentyűagenesia eseteben a tarsulo cardialis, extracardialis es kromoszoma-rendellenessegek, valamint a terhesseg kimenetelenek elemzese alapjan a diagnosztikus es prognosztikus tenyezők azonositasa. Beteganyag es modszer: A Semmelweis Egyetem Altalanos Orvostudomanyi Kar I. sz. Szuleszeti es Nőgyogyaszati Klinika Magzati Echokardiografias Laboratoriumaban 1993. januar 1. es 2005. december 31. kozott praenatalisan felismert pulmonalis billentyűagenesia-esetek adatainak retrospektiv elemzese. A diagnozis ellenőrzese fetopatologiai, patologiai, illetve postnatalis ultrahangvizsgalattal tortent. Vizsgaltak a terhessegi kort a praenatalis diagnozis idejen, a magzati echokardiografia indikaciojat, a tarsulo cardialis, extracardialis es kromoszoma-rendellenessegek előfordulasat. Eredmenyek: A pulmonalis billentyű agenesiajanak diagnozisat praenatalisan tiz esetben allapitottak meg. A terhesseg kora a diagnozis felallitasanak idejen atlagosan 23,1 het (1...

[Holt-Oram syndrome: genetic counseling and diagnosis with prenatal ultrasonography].

A szerzők az 1976 es 2005 kozotti időszakban, az intezetuk genetikai tanacsadasan előfordulo autoszomalis dominansan oroklődő Holt–Oram-szindromas esetekről szamolnak be. Első beteguk, egy Holt–Oram-szindromas ferfi a betegseg 50%-os atorokitesi eselyet tul magasnak itelve, lemondott a gyermeknemzesről. Ket, Holt–Oram-szindromaban szenvedő nő terhessegeben tortent magzati ultrahangvizsgalat es echokardiografia. Az egyik esetben kizartak a betegseg lehetőseget, a masik esetben diagnosztizaltak a magzat Holt–Oram-szindromajat. Ezenkivul ket, genetikai szempontbol nem terhelt nő magzataban ismertek fel a Holt–Oram-szindromat praenatalisan a masodik trimeszterben. Az egyik esetben a sziv- es vegtagfejlődesi rendellenessegek olyan sulyosak voltak, hogy a hazaspar a terhesseg megszakitasahoz folyamodott. A vetelesindukciot kovető fetopatologiai vizsgalat megerősitette a praenatalis diagnozist.