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A Geipel

Publications and source records attributed to A Geipel.

46 records · Page 3Linked to original sources

Prenatal diagnosis of single umbilical artery: determination of the absent side, associated anomalies, Doppler findings and perinatal outcome.

OBJECTIVE: To determine the absent side of a single umbilical artery and its association with malformations and abnormal karyotypes. METHODS: We prospectively studied 102 fetuses from 13 to 39 weeks of gestational age with a prenatally identified single umbilical artery. The absent side, pregnancy data, Doppler findings and the perinatal outcome were reviewed. RESULTS: (1) The left umbilical artery was absent in 71 (69.6%) and the right in 31 (30.4%) fetuses; (2) Single umbilical artery as an isolated finding occurred in 59 (57.8%) pregnancies and was not associated with aneuploidy. The mean gestational age at delivery in this group was 38.4 weeks and the mean birth weight was 3047 g. Six (10.2%) fetuses were small for gestational age, all of them with normal umbilical and uterine Doppler findings; and (3) Chromosomal abnormalities were diagnosed in 10 of 43 fetuses with single umbilical artery and congenital malformations. In nine of 10 fetuses with aneuploidy the left umbilical artery was not developed. Absence of the left artery occurred in 21 of 33 fetuses with sonographic anomalies and normal karyotype. Pathologic Doppler measurements of the umbilical artery were found in only one case of nonchromosomal abnormality. CONCLUSION: Our data suggest that in fetuses with single umbilical artery the absence of the left artery is more frequent than the absence of the right artery. The association with additional malformations seems to be equal on each side.

Abnormalities, Multiple↗

Genetic sonography as the preferred option of prenatal diagnosis in patients with pregnancies following intracytoplasmic sperm injection.

The option of prenatal diagnosis with nuchal translucency measurement at 10-14 weeks of gestation and second trimester targeted ultrasound including fetal echocardiography (genetic sonography) is reported in patients after intracytoplasmic sperm injection (ICSI). From January 1995 to December 1998, 153 consecutive patients, with a mean age of 32.3 years (+/-4.1) and 29. 6% >/= 35 years, who had become pregnant after ICSI, were studied. They attended our unit for first and second trimester sonography. Of these, 67.8% of primigravid and 80.9% of nulliparous women were included. Multiple pregnancy rate was 19.7%; 189 fetuses were screened in total. Due to the introduction of genetic sonography in 1995, the rate of invasive prenatal diagnosis decreased from 74% in 1995, to 48, 36 and 19% in 1996, 1997, and 1998 respectively. Two inherited numerical and structural chromosomal anomalies in clinically healthy children at birth (1.0%) and four major malformations in all liveborn children and late abortions (2.1%) were recorded. The results demonstrate that especially in women of advanced reproductive age with a long history of infertility, detailed genetic sonography may be a reasonable and highly accepted alternative to avoid even the relatively low risks associated with invasive screening procedures.

Adult↗

Three-dimensional ultrasound for the assessment of uterine anatomy and detection of congenital anomalies: a comparison with hysterosalpingography and two-dimensional sonography.

The purpose of this study was to investigate the potential value of three-dimensional ultrasound for the assessment of normal uterine anatomy and the diagnosis of congenital uterine anomalies. A total of 61 patients with a history of recurrent miscarriage or infertility and who had previously been investigated by hysterosalpingography were recruited into the study. They first underwent a conventional two-dimensional transvaginal ultrasound scan. At the end of the examination, three-dimensional ultrasound volumes were recorded and stored in the machine computer memory. The examination of planar reformatted sections was than used for the assessment of uterine morphology and the diagnosis of congenital anomalies. On three-dimensional scanning, the most useful plane was a transverse section through the whole length of the uterus from the fundus to the cervix. Hysterosalpingography showed a normal uterus in 44 (72.1%) patients, an arcuate uterus in nine (14.8%) and a major fusion defect in three cases (4.9%). Five patients (8.2%) had large fibroids which were distorting the uterine cavity. Good-quality two-dimensional ultrasound images were obtained in 60 (98.3%) and three-dimensional images in 58 (95.1%) cases. All poor images were caused by large uterine fibroids. Comparison between hysterosalpingography and ultrasound showed that five false-positive diagnoses of arcuate uterus and three of major uterine anomalies were made on two-dimensional scans. Three-dimensional ultrasound agreed with hysterosalpingography in all cases of arcuate uterus and major congenital anomalies. The ability to visualize both the uterine cavity and the myometrium on a three-dimensional scan facilitated the diagnosis of uterine anomalies and enabled easy differentiation between subseptate and bicornuate uteri.

Abortion, Habitual↗

Is intracytoplasmic sperm injection itself an indication to perform preimplantation genetic diagnosis (PGD)? About PGD, invasive prenatal diagnosis and genetic sonography.

Intracytoplasmic sperm injection (ICSI) provides the only sufficient treatment to overcome severe forms of male infertility. However, male infertility is linked to several genetic problems as an increased number of chromosomal aberrations, cystic fibrosis transmembrane conductance regulator gene mutations, Y-chromosome microdeletions, and androgen receptor mutations. Therefore, these couples are at a higher risk of transmitting genetic problems to their offspring compared to the general population. A proposed increased number of gonosomal aberrations in the offspring possibly results from the ICSI technique itself. This led in general to a worldwide agreement to counsel those couples to undergo invasive prenatal diagnosis in order to exclude chromosome abnormalities, especially gonosomal aberrations. In this paper the genetic risks of these couples and the possible implications of ICSI itself are discussed. Preimplantation genetic diagnosis may be considered a procedure of choice in these cases, but substantial ethical problems arise when such a screening is sought. An alternative procedure of prenatal diagnosis in these couples seems to be 'genetic sonography', i.e. high-resolution ultrasound with measurement of nuchal translucency at the end of the first trimester, and detailed fetal evaluation at 18-22 weeks of gestation.

Chromosome Aberrations↗

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.

Blood Flow Velocity↗