scholarly journals Prenatal Diagnosis of Congenital Malformations

2018 ◽  
pp. 1-15
Author(s):  
Tippi C. MacKenzie ◽  
N. Scott Adzick
2008 ◽  
Vol 15 (4) ◽  
pp. 351-355 ◽  
Author(s):  
J. CHEMKE ◽  
R. NlSANl ◽  
R. KASSIF ◽  
M. LANCET ◽  
R. BEISER ◽  
...  

2016 ◽  
pp. 1-15
Author(s):  
Tippi C. MacKenzie ◽  
N. Scott Adzick

2004 ◽  
Vol 104 (5, Part 1) ◽  
pp. 957-964 ◽  
Author(s):  
Allyson J. Peller ◽  
Marie-Noel Westgate ◽  
Lewis B. Holmes

2017 ◽  
Vol 45 (6) ◽  
Author(s):  
Sonal Panchal ◽  
Asim Kurjak ◽  
Chaitanya Nagori

AbstractThree-dimensional ultrasound (3D US) is a modality of choice for prenatal diagnosis of congenital malformations. But 3D-four-dimensional US(4D US) is of utmost importance also to achieve pregnancy. 3D US plays an important role for diagnosis of PCO, to assess ovarian reserve and response and thus to decide optimum stimulation protocols. It adds to the information on follicular maturity and endometrial receptivity, thus improving the chances to achieve pregnancy for patients under treatment for fertility. 3D hystero-contrast-salpingography (HyCoSy) has also proved itself to be one of the best modalities for assessment of tubal patency. In this article, the role of 3D and 4D US is discussed for the following. I. Pretreatment assessment of the females desiring fertility which includes assessment of uterus and fallopian tubes. II. Monitoring of infertile females undergoing treatment. III. Assessment of very early pregnancy – especially in abnormal locations.


Author(s):  
N.J. Leschot ◽  
P.E. Treffers ◽  
M. Verjaal ◽  
J.J. der Weduwen ◽  
J.Bennebroek Gravenhorst ◽  
...  

2020 ◽  
pp. 49-63
Author(s):  
Tippi C. MacKenzie ◽  
N. Scott Adzick

2015 ◽  
Vol 5 (4) ◽  
pp. 19-25
Author(s):  
Iwona Strzelecka ◽  
Maciej Słodki ◽  
Andrzej Zieliński ◽  
Iwona Maroszyńska ◽  
Maria Respondek-Liberska

Abstract Introduction: Prenatal diagnosis is an integral part of modern perinatal care. In the article results of questionnaires pertaining to the prenatal process of diagnosis are presented. Parents whose children were afflicted with congenital malformations of all types responded to enquiry Materials and methods: Between March 2014 and March 2015 150 of 355 infants were hospitalized in the Department of Pediatric Intensive Care and Congenital Malformations in Łódź, and 150 had congenital malformations. Results: 101 parents of 150 children (67,3%) have given the feedback. Anomalies were such as: of the digestive system (37%), CHD (25%), OUN (14 %), genito-urinary (13%), skeletal system (9%) and respiratory system (2%). In 65 children of 101 the defects were detected prenatally. The obstetric US exam was the most frequently pointed out as performed (more than 1200). The biochemical markers and genetic tests in were performed in 34 pregnancies. The high percentage of ability to detect malformation was reported in the group of fetal echo examinations. Conclusions: 1. Prenatal ultrasound exams were the least effective method of making appropriate prenatal diagnosis of congenital malformation. 2. Fetal echocardiography had a high level of sensitivity and specificity in detecting congenital malformations. 3. Prenatal cardiologists proved to be the most effective in detecting congenital malformations 89,3 % of detected abnormalities. 4. Biochemical exams had a positive result in only one case of Down Syndrome.


Author(s):  
N.P. Marchenko, E.A. Shevchenko

The article describes a case of the prenatal diagnosis of Lejeune syndrome in 19 weeks 6 days of gestation. The following sonographic findings were identified: broad bridge, snub nose, hypoplasia of nasal bones and mandible, hypoplasia of the cavity of pellucid septum, ventriculomegaly. The patient was given 46,XX,del(5)(P12)[18] prenatal karyotyping. The family was consulted by the Regional Prenatal Board. The pregnancy was terminated by the family decision. The phenotype characteristics and congenital malformations discovered with the prenatal diagnosis were being then confirmed in the postmortem examination.


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