Preconception and Prenatal Diagnostic Act 1994, Rule 1996, Amendment 2003, 2012

2013 ◽  
pp. 98-98
Author(s):  
Narendra Malhotra ◽  
RN Goel ◽  
Shashi Goel
Keyword(s):  
Prenatal Diagnostic

Diagnostic Value of Non-Invasive Prenatal Screening of β-thalassemia by Cell Free Fetal DNA and Fetal NRBC

2019 ◽  
Vol 19 (2) ◽  
pp. 105-111
Author(s):  
Nadia Shafei ◽  
Mohammad Saeed Hakhamaneshi ◽  
Massoud Houshmand ◽  
Siavash Gerayeshnejad ◽  
Fardin Fathi ◽  
...  
Keyword(s):  
Sensitivity And Specificity ◽  
Multiple Displacement Amplification ◽  
Diagnostic Value ◽  
Diagnostic Methods ◽  
Beta Thalassemia ◽  
Non Invasive ◽  
Fetal Dna ◽  
Prenatal Diagnostic ◽  
Cell Free Fetal Dna ◽  
Invasive Techniques

Background: Beta thalassemia is a common disorder with autosomal recessive inheritance. The most prenatal diagnostic methods are the invasive techniques that have the risk of miscarriage. Now the non-invasive methods will be gradually alternative for these invasive techniques. Objective: The aim of this study is to evaluate and compare the diagnostic value of two non-invasive diagnostic methods for fetal thalassemia using cell free fetal DNA (cff-DNA) and nucleated RBC (NRBC) in one sampling community. Methods: 10 ml of blood was taken in two k3EDTA tube from 32 pregnant women (mean of gestational age = 11 weeks), who themselves and their husbands had minor thalassemia. One tube was used to enrich NRBC and other was used for cff-DNA extraction. NRBCs were isolated by MACS method and immunohistochemistry; the genome of stained cells was amplified by multiple displacement amplification (MDA) procedure. These products were used as template in b-globin segments PCR. cff-DNA was extracted by THP method and 300 bp areas were recovered from the agarose gel as fetus DNA. These DNA were used as template in touch down PCR to amplify b-globin gen. The amplified b-globin segments were sequenced and the results compared with CVS resul. Results: The data showed that sensitivity and specificity of thalassemia diagnosis by NRBC were 100% and 92% respectively and sensitivity and specificity of thalassemia diagnosis by cff-DNA were 100% and 84% respectively. Conclusion: These methods with high sensitivity can be used as screening test but due to their lower specificity than CVS, they cannot be used as diagnostic test.

scholarly journals Sex Differences Are Here to Stay: Relevance to Prenatal Care

2021 ◽  
Vol 10 (13) ◽  
pp. 3000
Author(s):  
Amy M. Inkster ◽  
Icíar Fernández-Boyano ◽  
Wendy P. Robinson
Keyword(s):  
Sex Differences ◽  
Pregnancy Complications ◽  
Pregnancy Loss ◽  
Gonadal Steroid Hormones ◽  
Perinatal Complications ◽  
Spontaneous Preterm Birth ◽  
Prenatal Diagnostic ◽  
Y Chromosomes ◽  
Offspring Sex ◽  
Differential Gene

Sex differences exist in the incidence and presentation of many pregnancy complications, including but not limited to pregnancy loss, spontaneous preterm birth, and fetal growth restriction. Sex differences arise very early in development due to differential gene expression from the X and Y chromosomes, and later may also be influenced by the action of gonadal steroid hormones. Though offspring sex is not considered in most prenatal diagnostic or therapeutic strategies currently in use, it may be beneficial to consider sex differences and the associated mechanisms underlying pregnancy complications. This review will cover (i) the prevalence and presentation of sex differences that occur in perinatal complications, particularly with a focus on the placenta; (ii) possible mechanisms underlying the development of sex differences in placental function and pregnancy phenotypes; and (iii) knowledge gaps that should be addressed in the development of diagnostic or risk prediction tools for such complications, with an emphasis on those for which it would be important to consider sex.

Current relevance of non-invasive prenatal study of cell-free fetal DNA in the mother’s blood and prospects for its application in mass screening of pregnant women in the Russian Federation

2021 ◽  
Vol 70 (1) ◽  
pp. 19-50
Author(s):  
Elena A. Kalashnikova ◽  
Andrey S. Glotov ◽  
Elena N. Andreyeva ◽  
Ilya Yu. Barkov ◽  
Galina Yu. Bobrovnik ◽  
...  
Keyword(s):  
Mass Screening ◽  
Russian Federation ◽  
Prenatal Screening ◽  
First Trimester ◽  
Screening Programs ◽  
Non Invasive ◽  
Fetal Dna ◽  
Prenatal Diagnostic ◽  
Cell Free Fetal Dna ◽  
The Russian Federation

This review article offers an analysis of application of cell-free fetal DNA non-invasive prenatal screening test for chromosome abnormalities in the mothers blood in different countries. The diagnostic capacities of the method, its limitations, execution models and ethical aspects pertinent to its application are discussed. The data for the discordant results is shown and analyzed. The advantages of the genome-wide variant of cell-free fetal DNA analysis and the problems concerning its application in the mass screening are described. The main suggestion is to implement the contingent cell-free fetal DNA testing model for the common trisomies (for the chromosomes 21, 18 and 13) into the prenatal diagnostic screening programs in the Russian Federation. This novel model is based on the results of the mass combined first trimester prenatal screening in four federal subjects of the country completed by 2019 and is offered as an additional screening in the mid-level risk group (with cut-off from 1 : 100 to 1 : 500 or from 1 : 100 to 1 : 1000) defined according to the first trimester prenatal screening results. The basic requirements for the implementation of the contingent model in the Russian Federation are stated.

scholarly journals Prenatal Diagnosis and Management of a Rare Central Tendon Defect Type of Congenital Diaphragmatic Hernia with a Massive Pericardial Effusion

2020 ◽  
Vol 2020 ◽  
pp. 1-5
Author(s):  
Inas Babic ◽  
Haifa Al-Jobair ◽  
Osama Al Towaijri ◽  
Huda Al-Shammary ◽  
Merna Atiyah ◽  
...  
Keyword(s):  
Pericardial Effusion ◽  
Congenital Diaphragmatic Hernia ◽  
Diaphragmatic Hernia ◽  
Neonatal Morbidity ◽  
Lung Hypoplasia ◽  
Defect Type ◽  
Tendon Defect ◽  
Prenatal Diagnostic ◽  
Large Pericardial Effusion ◽  
Prenatal Intervention

The central tendon defect type of congenital diaphragmatic hernia (CDH) is extremely rare and usually associated with a significant pericardial effusion. Prenatal diagnostic ultrasound features of this quite rare entity remain often overlooked or misdiagnosed. There is a dearth of literature about the role of prenatal intervention, often through an elective pericardiocentesis, for the prevention of lung hypoplasia and to decrease the overall neonatal morbidity and mortality. To the best of our knowledge, till date, there is only one case that was subjected to a prenatal intervention. Here, we present a second case of a central tendon defect type of CDH with a large pericardial effusion that was subjected to a prenatal transthoracic pericardiocentesis. Although smooth intubation and ventilation were performed immediately after birth, the infant suffered for several months from respiratory instability. Laparoscopic central tendon hernia repair was performed, and neonate was discharged home at seven months of age. Although prenatal pericardiocentesis may facilitate smoother postnatal intubation and ventilation, its broader effect on respiratory function is uncertain and still remains elusive.

scholarly journals PRECONCEPTION AND PRENATAL DIAGNOSTIC TECHNIQUES ACT 1994 AND ITS MAIN ROLE TO CURB SEX DETERMINATION AND SEX SELECTION

2016 ◽  
Vol 4 (7) ◽  
pp. 75-83
Author(s):  
Vaishali Waghmare ◽  
Hema Hema
Keyword(s):  
Sex Determination ◽  
Diagnostic Techniques ◽  
Sex Selection ◽  
Indian Society ◽  
Easy Access ◽  
Main Role ◽  
Low Literacy ◽  
Selective Abortion ◽  
Prenatal Diagnostic ◽  
Sex Selective Abortion

India has a male dominated culture where women are treated like a commodity and slave. Our Indian society gives preference only to the Son not to female because of which girls' child is not heartily welcomed and discrimination against girl child still prevails. Sex selective abortion is one of major issue in recent era in relation to violence against women under which the Ultrasonography machine plays an important role of sex detection. Main  cause for sex selection are Patriarchal system, Dowry system, only son who can performs the last rites, lineage and inheritance runs through the male line, the Small family norms , PARAYADHAN, easy access to the Medical facilities and Technology for Sex Selective Abortion. Low literacy rate, low socio-economic condition of women etc. Sex selection and sex determination causes violence, impact on equilibrium of nature, Polyandry, Imbalance between Male-Female populations etc Maharashtra was first State to enact Maharashtra regulation of use of PNDT Act in 1987.  The PNDT Act was passed in 1994 Hon. Supreme Court passed an Interim judgment in 2001 for more strict implementation of Act based on PIL filed by CEHAT, MASUM and AdvSabu George PNDT Act amended in 2003 to Pre conception and Pre-natal Diagnostic Technique Act (PC-PNDT)  Applicable to all Govt/NGO/Private/corporate establishments . Main purpose of Act is to ban the use of sex selection techniques before and after conception and prevent the misuse of prenatal diagnostic techniques for sex selective abortion. Every offence under this Act is cognizable, non-bailable and non-compoundable (Sec 27). Act has made it mandatory to maintain records of every scan done. (Section 29 and Rule 9) Section 5 and Rule 10 (1A).Implementing Authority under the Act is Appropriate Authority (Section 17) has power to search, seize and seal clinics (Section 30). The Act prohibited  communication of sex of the foetus by words, signs or in any other manner (Section 5) , advertising sex determination test in any form are liable for punishment (Section 22) .Offence under this Act punishable with imprisonment of years which extend to 5 years and fine up to 10,000 which extend up to 50,000.

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 Evaluation of women’s attitude to carrier screening

2019 ◽  
pp. 19-23
Author(s):  
Г.Ю. Зобкова ◽  
Е.Е. Баранова ◽  
Н.С. Демикова ◽  
А.Е. Донников ◽  
Н.М. Подзолкова
Keyword(s):  
Autosomal Recessive ◽  
Married Couples ◽  
Carrier Screening ◽  
Carrier Status ◽  
Prenatal Diagnostic ◽  
The Status ◽  
Autosomal Recessive Diseases

Цель: определение и анализ отношения женщин к прохождению скрининга на носительство мутаций в генах наиболее частых аутосомно-рецессивных заболеваний. Методы. Для исследования была разработана анкета, содержащая 11 вопросов, позволяющих оценить отношение женщин к различным видам диагностики. В анкетировании принимали участие 244 женщины фертильного возраста от 18-50 лет. Результаты. Желание пройти исследование на носительство перед зачатием изъявили 81,1% респондентов. 64,3% поддержали бы своего партнера при установлении у него статуса носительства и совместно обратились к врачу. Пройти пренатальную диагностику после установления статуса носительства у обоих партнеров хотели бы 60,7% респондентов. Выводы. В целом, женщины положительно отнеслись к возможности проведения исследования на носительство. Также было отмечено, что результаты исследования мало отразятся на отношениях в уже зарегистрированных браках. Purpose: the study aim was to determine and analyze woman’s attitude to carrier screening of the most common autosomal recessive diseases. Methods. For the study, a questionnaire was developed containing 11 questions to assess the attitude of women to various types of diagnostics. The survey involved 244 women of reproducrive age from 18 till 50 years. Results. 81.1% of respondents expressed a desire to undergo carrier screening before conception. 64.3% would support their partner when partner’s carrier status established and consulted with doctor together. 60.7% of respondents would like to undergo prenatal diagnostic after establishing the status of carriage in both partners. Conclusion. In general, women reacted positively to the possibility of passing carrier screening. It was also noted that the results of the screening will have low effect on the married couples.

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