scholarly journals Prenatal diagnosis of organic acidemias at a tertiary center

2019 ◽  
Vol 22 (1) ◽  
pp. 29-34
Author(s):  
A Tanacan ◽  
BB Gurbuz ◽  
E Aydin ◽  
M Erden ◽  
T Coskun ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
Mutation Analysis ◽  
Maternal Age ◽  
Maple Syrup ◽  
Organic Acidemias ◽  
Targeted Mutation ◽  
Prenatal Diagnostic ◽  
Tertiary Center ◽  
Gestational Week ◽  
Chorion Villus

AbstractThe aim of this study was to share our experience in the prenatal diagnosis (PND) of organic acidemias (OAs) in our clinic. This study consisted of 10 cases in whom an invasive prenatal diagnostic test (IPNDT) was performed by a single physician for the PND of OAs. Median maternal age, parity, gestational week of IPNDT, prenatal test indications, OA types, method of IPNDT, IPNDT results and gestational outcomes were evaluated. Targeted mutation analysis was performed in fetal DNA for the specific mutations by using polymerase chain reaction (PCR) and direct Sanger sequencing. The diagnosis was confirmed by genetic targeted mutation analysis after birth. Median maternal age, parity and gestational week of IPNDT values were 30 (range 21-35), one (range 0-4) and 11.5 (range 11-17), respectively. Indications for IPNDT were mother being a carrier of the disease for one case (10.0%) and at least one child with OA in the family for nine cases (90.0%). Organic acidemia types investigated were maple syrup urine disease (MSUD), methylmalonic acidemia (MMA) and isovaleric acidemia (IVA) in five (50.0%), three (30.0%) and two (20.0%) patients, respectively. Chorion villus sampling (CVS) was done in seven (70.0%) patients and amniocentesis was performed in three (30.0%) patients. Eight fetuses (80.0%) were found to be healthy and two fetuses (20.0%) were found to be affected (one case with IVA and one case with MMA). The two pregnancies (20.0%) with affected fetuses were terminated. Prenatal diagnosis of OAs is critical. Appropriate prenatal counseling should be given to families with known risk factors.

scholarly journals Retrospective analysis of prenatal invasive diagnostic procedures in a tertiary center

2021 ◽  
Vol 3 (1) ◽  
pp. 1-5
Author(s):  
Zeynep Gedik Özköse ◽  
Süleyman Cemil Oğlak ◽  
Mustafa Behram ◽  
Fatma Ölmez ◽  
Sema Süzen Çaypınar ◽  
...  
Keyword(s):  
Chromosomal Abnormalities ◽  
Invasive Procedure ◽  
Normal Karyotype ◽  
Diagnostic Procedures ◽  
Test Results ◽  
Prenatal Diagnostic ◽  
Tertiary Center ◽  
History Of ◽  
Gestational Week ◽  
Us Findings

Objective: This study aimed to analyze the indications and outcomes of prenatal invasive diagnostic procedures performed in a single tertiary center. Materials and Methods: The invasive procedure indications and karyotype results of 1666 pregnant women who underwent prenatal invasive procedures between March 2016 and November 2018 were retrospectively analyzed. The indications and results of prenatal invasive diagnostic procedures were recorded. Results: Amniocentesis (AS) was performed to 1060 (63.6%) patients, corion villus sampling (CVS) to 299 (17.9%), and cordocentesis (CS) to 307 (18.4%) patients. Among the prenatal invasive procedure indications, the most frequent indication was abnormal ultrasound (US) findings, with a rate of 48.3% (n= 805). A normal karyotype was detected in 85% (n= 1416) of the cases, and chromosomal abnormality was detected in 12.2% (n= 204) of the cases. Abnormal karyotype results were found in 111 (10.5%) of 1060 patients who underwent AS, 87 (29.1%) of 299 patients who underwent CVS, and 52 (16.9%) of 307 patients who underwent CS. Among the numerical chromosomal abnormalities, trisomy 21 was the most common abnormality with a rate of 46% (94/204), while inversions were the most common abnormality of structural chromosomal abnormalities at 8.8% (18/204). Conclusion: The results of the current study show that AS is the most common prenatal diagnostic invasive procedure. We obtained the highest fetal chromosomal anomaly rate in patients who experienced CVS. Abnormal US findings were the most common prenatal invasive diagnostic procedure indication in our study. Choosing the most appropriate invasive procedure is related to the obstetricians' experience, medical history of the patient, the gestational week at admission, maternal prenatal serum screening test results, and abnormal US findings.

Dual and multiple trisomies: analysis of 38 cases from 13 thousand karyotyped embryos and fetuses

2017 ◽  
pp. 109-115
Author(s):  
N.P. Veropotvelyan ◽  
Keyword(s):  
Prenatal Diagnosis ◽  
High Risk ◽  
Pregnant Women ◽  
Maternal Age ◽  
Chromosomal Abnormalities ◽  
Chorionic Villus ◽  
Primary Group ◽  
Chorionic Villus Sampling ◽  
Missed Abortion ◽  
Reproductive Losses

The study presents data of different authors, as well as its own data on the frequency of multiple trisomies among the early reproductive losses in the I trimester of pregnancy and live fetuses in pregnant women at high risk of chromosomal abnormalities (CA) in I and II trimesters of gestation. The objective: determining the frequency of occurrence of double (DT) and multiple trisomies (MT) among the early reproductive losses in the I trimester of pregnancy and live fetuses in pregnant women at high risk of occurrence of HA in I and II trimesters of gestation; establishment of the most common combinations of diesel fuel and the timing of their deaths compared with single regular trisomy; comparative assessment materinskogo age with single, double and multiple trisomies. Patients and methods. During the period from 1997 to 2016, the first (primary) group of products in 1808 the concept of missed abortion (ST) of I trimester was formed from women who live in Dnepropetrovsk, Zaporozhye, Kirovograd, Cherkasy, Kherson, Mykolaiv regions. The average term of the ST was 8±3 weeks. The average age of women was 29±2 years. The second group (control) consisted of 1572 sample product concepts received during medical abortion in women (mostly residents of Krivoy Rog) in the period of 5-11 weeks of pregnancy, the average age was 32 years. The third group was made prenatally karyotyped fruits (n = 9689) pregnant women with high risk of HA of the above regions of Ukraine, directed the Centre to invasive prenatal diagnosis for individual indications: maternal age, changes in the fetus by ultrasound (characteristic malformations and echo markers HA) and high risk of HA on the results of the combined prenatal screening I and II trimesters. From 11 th to 14 th week of pregnancy, chorionic villus sampling was performed (n=1329), with the 16th week – platsentotsentez (n=2240), 18 th and 24 th week – amniocentesis (n=6120). Results. A comparative evaluation of maternal age and the prevalence anembriony among multiple trisomies. Analyzed 13,069 karyotyped embryonic and fetal I-II trimester of which have found 40 cases of multiple trisomies – 31 cases in the group in 1808 missed abortion (2.84% of total HA), 3 cases including 1 572 induced medabortov and 7 cases during 9689 prenatal research (0.51% of HA). Determined to share the double trisomies preembrionalny, fetal, early, middle and late periods of fetal development. Conclusion. There were no significant differences either in terms of destruction of single and multiple trisomies or in maternal age or in fractions anembrionalnyh pregnancies in these groups. Key words: multiple trisomies, double trisomy, missed abortion, prenatal diagnosis.

scholarly journals Prenatal diagnosis for de novo mutations: Experience from a tertiary center over a 10‐year period

2019 ◽  
Vol 7 (4) ◽  
pp. e00573 ◽  
Author(s):  
Ori Eyal ◽  
Michal Berkenstadt ◽  
Haike Reznik‐Wolf ◽  
Hana Poran ◽  
Tomer Ziv‐Baran ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
De Novo ◽  
De Novo Mutations ◽  
Tertiary Center

scholarly journals Mutation Analysis for Heterozygote Detection and the Prenatal Diagnosis of Cystic Fibrosis

1990 ◽  
Vol 322 (5) ◽  
pp. 291-296 ◽  
Author(s):  
Wanda K. Lemna ◽  
Gerald L. Feldman ◽  
Bat-sheva Kerem ◽  
Susan D. Fernbach ◽  
Elaine P. Zevkovich ◽  
...  
Keyword(s):  
Cystic Fibrosis ◽  
Prenatal Diagnosis ◽  
Mutation Analysis ◽  
Heterozygote Detection

scholarly journals A Case of BeckwithWiedemann Syndrome with Polyhydramnios

2017 ◽  
pp. 185
Author(s):  
Yusrawati Yusrawati ◽  
Reno Muhatiah
Keyword(s):  
Birth Weight ◽  
Prenatal Diagnosis ◽  
Caesarean Section ◽  
Apgar Score ◽  
Rare Case ◽  
Obstet Gynecol ◽  
Fetal Distress ◽  
Polycystic Kidney ◽  
Prenatal Diagnostic ◽  
Female Baby

Objective: To report a rare case of Beckwith-Wiedemann Syndrome with polyhydramnios. Methods: Reporting a case of Beckwith-Wiedemann syndrome with polyhydramnios. Results: Case of Mrs. Y, 27 years old woman, G2P1A0L1 preterm pregnancy (30-31 weeks) with polyhidramnios. From ultrasound found renomegaly, bilateral hyperechogenic polycystic kidney, and the karyotype result was 46,XX. Caesarean section was performed due to fetal distress. A female baby was born by caesarean section with birth weight of 1300 grams, 37 centimeters of body length, and APGAR score of 6/8. The congenital anomalies found were hepatomegaly, renomegaly, bilateral hyperechogenic renal polycystic, low set ears. The baby was died in NICU on day care 5th, with suspected of sepsis. Conclusion: Prenatal diagnosis of Beckwith-Wiedemann syndrome on fetus with polyhydramnios. [Indones J Obstet Gynecol 2017; 5-3: 185-188] Keywords: amniocentesis, beckwith-wiedemann syndrome, polyhydramnios, prenatal diagnostic, USG

scholarly journals Mutation analysis in the F8 gene in 485 families with haemophilia A and prenatal diagnosis in China

Haemophilia ◽  
2020 ◽  
Author(s):  
Yin Feng ◽  
Qianqian Li ◽  
Panlai Shi ◽  
Ning Liu ◽  
Xiangdong Kong ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
Mutation Analysis ◽  
Haemophilia A

Effect of chorionic villus sampling on utilization of prenatal diagnosis in women of advanced maternal age

2008 ◽  
Vol 41 (5) ◽  
pp. 239-242 ◽  
Author(s):  
Helen Brandenburg ◽  
Coon G. Gho ◽  
Milena G. J. Jahoda ◽  
Theo Stijnen ◽  
Hans Bakker ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
Maternal Age ◽  
Chorionic Villus ◽  
Advanced Maternal Age ◽  
Chorionic Villus Sampling

scholarly journals A New Case of Prenatally Diagnosed Pentasomy X: Review of the Literature

2015 ◽  
Vol 2015 ◽  
pp. 1-5 ◽  
Author(s):  
Linda Maria Azzurra Pirollo ◽  
Leila Baghernajad Salehi ◽  
Simona Sarta ◽  
Marco Cassone ◽  
Maria Vittoria Capogna ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
Maternal Age ◽  
Three Dimensional ◽  
Advanced Maternal Age ◽  
Fetal Autopsy ◽  
X Ray ◽  
Y Chromosomes ◽  
Increased Risk ◽  
Prenatal Test ◽  
Mother’S Age

Pentasomy X is a rare chromosomal abnormality probably due to a nondisjunction during the meiosis. Only four cases prenatally diagnosed were described until now. Our case is the fifth one prenatally diagnosed at 20 weeks of gestational age in a 39-years-old woman. She underwent invasive prenatal diagnosis for her advanced maternal age without any other known risk factor. Amniocentesis performed at 17 weeks showed a female 49, XXXXX karyotype. The ultrasonographic examination revealed nonspecific signs of a mild early fetal growth retardation and no significant increased nuchal fold. The fetal autopsy and the X-ray excluded major malformations. Prenatal diagnosis is often difficult due to the lack of indicative ultrasonographic findings and the rarity of described cases. The influence of the mother’s age on the occurrence of penta-X syndrome has not been determined. Considering the lack of correlation between advanced maternal age and increased risk for pentasomy X, as well as the absence of typical echographic signs, evaluation of the inclusion of a noninvasive prenatal test (NIPT) that expands clinical coverage to include the X and Y chromosomes in routine prenatal diagnosis should be considered as well as three-dimensional ultrasound to detect any helpful indicative prognostic signs.

Differential Effect of Advanced Maternal Age on Prenatal Diagnosis of Trisomies 13, 18 and 21

1999 ◽  
Vol 14 (3) ◽  
pp. 181-184 ◽  
Author(s):  
Arie Drugan ◽  
Yuval Yaron ◽  
Ronit Zamir ◽  
Salah A.D. Ebrahim ◽  
Mark P. Johnson ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
Differential Effect ◽  
Maternal Age ◽  
Advanced Maternal Age
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