Pregnant down syndrome woman

Reproduction in Down syndrome - PubMed

Case Reports

. 1982 Jun;59(6 Suppl):13S-7S.

L Bovicelli, L F Orsini, N Rizzo, V Montacuti, M Bacchetta

PMID: 6211644

Case Reports

L Bovicelli et al. Obstet Gynecol. 1982 Jun.

. 1982 Jun;59(6 Suppl):13S-7S.

Authors

L Bovicelli, L F Orsini, N Rizzo, V Montacuti, M Bacchetta

PMID: 6211644

Abstract

A new case of pregnancy in a 29-year-old woman with trisomy 21 is described. She gave birth to a male infant, chromosomally and phenotypically normal, who died the day after delivery due to prematurity. Thirty pregnancies of 26 affected mothers, including the present woman, resulted in 10 children with Down syndrome, 18 children (1 set of twins) without Down syndrome, and 3 spontaneous abortions. Although rare, pregnancies in women with Down syndrome could become more frequent, increasing the importance of genetic, reproductive, and obstetric problems. These problems are reviewed with special reference to the occurrence of nonspecific abnormalities in chromosomally normal children, difficulties in labor and delivery, and frequency of prematurity and low birth weight.

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MeSH terms

Facts about Down Syndrome | CDC

What is Down Syndrome?

Down syndrome is a condition in which a person has an extra chromosome. Chromosomes are small “packages” of genes in the body. They determine how a baby’s body forms and functions as it grows during pregnancy and after birth. Typically, a baby is born with 46 chromosomes. Babies with Down syndrome have an extra copy of one of these chromosomes, chromosome 21. A medical term for having an extra copy of a chromosome is ‘trisomy.’ Down syndrome is also referred to as Trisomy 21. This extra copy changes how the baby’s body and brain develop, which can cause both mental and physical challenges for the baby.

Even though people with Down syndrome might act and look similar, each person has different abilities. People with Down syndrome usually have an IQ (a measure of intelligence) in the mildly-to-moderately low range and are slower to speak than other children.

Some common physical features of Down syndrome include:

A flattened face, especially the bridge of the nose
Almond-shaped eyes that slant up
A short neck
Small ears
A tongue that tends to stick out of the mouth
Tiny white spots on the iris (colored part) of the eye
Small hands and feet
A single line across the palm of the hand (palmar crease)
Small pinky fingers that sometimes curve toward the thumb
Poor muscle tone or loose joints
Shorter in height as children and adults

How Many Babies are Born with Down Syndrome?

Down syndrome remains the most common chromosomal condition diagnosed in the United States. Each year, about 6,000 babies born in the United States have Down syndrome. This means that Down syndrome occurs in about 1 in every 700 babies.¹

Types of Down Syndrome

There are three types of Down syndrome. People often can’t tell the difference between each type without looking at the chromosomes because the physical features and behaviors are similar.

Trisomy 21: About 95% of people with Down syndrome have Trisomy 21.² With this type of Down syndrome, each cell in the body has 3 separate copies of chromosome 21 instead of the usual 2 copies.
Translocation Down syndrome: This type accounts for a small percentage of people with Down syndrome (about 3%).² This occurs when an extra part or a whole extra chromosome 21 is present, but it is attached or “trans-located” to a different chromosome rather than being a separate chromosome 21.
Mosaic Down syndrome: This type affects about 2% of the people with Down syndrome. ² Mosaic means mixture or combination. For children with mosaic Down syndrome, some of their cells have 3 copies of chromosome 21, but other cells have the typical two copies of chromosome 21. Children with mosaic Down syndrome may have the same features as other children with Down syndrome. However, they may have fewer features of the condition due to the presence of some (or many) cells with a typical number of chromosomes.

Causes and Risk Factors

The extra chromosome 21 leads to the physical features and developmental challenges that can occur among people with Down syndrome. Researchers know that Down syndrome is caused by an extra chromosome, but no one knows for sure why Down syndrome occurs or how many different factors play a role.
One factor that increases the risk for having a baby with Down syndrome is the mother’s age. Women who are 35 years or older when they become pregnant are more likely to have a pregnancy affected by Down syndrome than women who become pregnant at a younger age. ^3-5However, the majority of babies with Down syndrome are born to mothers less than 35 years old, because there are many more births among younger women.^6,7

Diagnosis

There are two basic types of tests available to detect Down syndrome during pregnancy: screening tests and diagnostic tests. A screening test can tell a woman and her healthcare provider whether her pregnancy has a lower or higher chance of having Down syndrome. Screening tests do not provide an absolute diagnosis, but they are safer for the mother and the developing baby. Diagnostic tests can typically detect whether or not a baby will have Down syndrome, but they can be more risky for the mother and developing baby. Neither screening nor diagnostic tests can predict the full impact of Down syndrome on a baby; no one can predict this.

Screening Tests

Screening tests often include a combination of a blood test, which measures the amount of various substances in the mother’s blood (e. g., MS-AFP, Triple Screen, Quad-screen), and an ultrasound, which creates a picture of the baby. During an ultrasound, one of the things the technician looks at is the fluid behind the baby’s neck. Extra fluid in this region could indicate a genetic problem. These screening tests can help determine the baby’s risk of Down syndrome. Rarely, screening tests can give an abnormal result even when there is nothing wrong with the baby. Sometimes, the test results are normal and yet they miss a problem that does exist.

Diagnostic Tests

Diagnostic tests are usually performed after a positive screening test in order to confirm a Down syndrome diagnosis. Types of diagnostic tests include:

Chorionic villus sampling (CVS)—examines material from the placenta
Amniocentesis—examines the amniotic fluid (the fluid from the sac surrounding the baby)
Percutaneous umbilical blood sampling (PUBS)—examines blood from the umbilical cord

These tests look for changes in the chromosomes that would indicate a Down syndrome diagnosis.

Treatments

Down syndrome is a lifelong condition. Services early in life will often help babies and children with Down syndrome to improve their physical and intellectual abilities. Most of these services focus on helping children with Down syndrome develop to their full potential. These services include speech, occupational, and physical therapy, and they are typically offered through early intervention programs in each state. Children with Down syndrome may also need extra help or attention in school, although many children are included in regular classes.

Other Resources

The views of these organizations are their own and do not reflect the official position of CDC.

Down Syndrome Research Foundation (DSRF)
DSRF initiates research studies to better understand the learning styles of those with Down syndrome.
Global Down Syndrome Foundation
This foundation is dedicated to significantly improving the lives of people with Down syndrome through research, medical care, education and advocacy.
National Association for Down Syndrome
The National Association for Down Syndrome supports all persons with Down syndrome in achieving their full potential. They seek to help families, educate the public, address social issues and challenges, and facilitate active participation.
National Down Syndrome Society (NDSS)
NDSS seeks to increase awareness and acceptance of those with Down syndrome.

References

Mai CT, Isenburg JL, Canfield MA, Meyer RE, Correa A, Alverson CJ, Lupo PJ, Riehle‐Colarusso T, Cho SJ, Aggarwal D, Kirby RS. National population‐based estimates for major birth defects, 2010–2014. Birth Defects Research. 2019; 111(18): 1420-1435.
Shin M, Siffel C, Correa A. Survival of children with mosaic Down syndrome. Am J Med Genet A. 2010;152A:800-1.
Allen EG, Freeman SB, Druschel C, et al. Maternal age and risk for trisomy 21 assessed by the origin of chromosome nondisjunction: a report from the Atlanta and National Down Syndrome Projects. Hum Genet. 2009 Feb;125(1):41-52.
Ghosh S, Feingold E, Dey SK. Etiology of Down syndrome: Evidence for consistent association among altered meiotic recombination, nondisjunction, and maternal age across populations. Am J Med Genet A. 2009 Jul;149A(7):1415-20.
Sherman SL, Allen EG, Bean LH, Freeman SB. Epidemiology of Down syndrome. Ment Retard Dev Disabil Res Rev. 2007;13(3):221-7.
Adams MM, Erickson JD, Layde PM, Oakley GP. Down’s syndrome. Recent trends in the United States. JAMA. 1981 Aug 14;246(7):758-60.
Olsen CL, Cross PK, Gensburg LJ, Hughes JP. The effects of prenatal diagnosis, population ageing, and changing fertility rates on the live birth prevalence of Down syndrome in New York State, 1983-1992. Prenat Diagn. 1996 Nov;16(11):991-1002.
Bull MJ, the Committee on Genetics. Health supervision for children with Down syndrome. Pediatrics. 2011;128:393-406.

Screening tests for Down syndrome in the first 24 weeks of pregnancy

Relevance
Down syndrome (also known as Down syndrome or Trisomy 21) is an incurable genetic disorder that causes significant physical and mental health problems and disability. However, there is great variation in how Trisomy Down affects people. Some individuals have severe suffering, while others have little problems and are able to lead relatively normal lives. There is no way to predict how badly each child may be affected.

Parents-to-be are given the option of having a Down test during pregnancy to help them make decisions. If a pregnant woman is carrying a child with Down syndrome, then a decision must be made whether to terminate or continue the pregnancy. This information offers parents the opportunity to plan for life with a Down child.

The most accurate tests to detect Down include testing of amniotic fluid (fluid around the fetus, amniocentesis required) or placental tissue (chorionic villus biopsy (CVS)) for abnormal chromosomes associated with Down. Both tests require the insertion of a needle into the mother's abdomen and increase the risk of miscarriage. Thus, the tests are not suitable to be given to all pregnant women. Instead, screening uses tests that measure markers in the mother's blood, urine, or baby's ultrasound. These screening tests are not perfect, they can miss cases of Down and also give a "high risk" result to some women whose children do not have Down. Thus, pregnancies identified as Down's "high risk" pregnancies using these screening tests require further testing by amniocentesis or CVS to confirm a Down's diagnosis.

What we did
The aim of this review was to find out which of the screening tests done during the first 24 weeks of pregnancy are most accurate in predicting the risk of Down pregnancy. We studied 7 different urinary markers that can be used alone, in ratios, or in combination, taken up to 24 weeks of gestation. This cumulatively creates 24 screening tests for Down. We found 19 studies involving 18,013 pregnant women, of which 527 were pregnancies with Down syndrome.

What we found
Evidence does not support the use of urine tests to screen for Down syndrome during the first 24 weeks of pregnancy. The amount of evidence is limited. These tests are not offered in routine clinical practice.

Other important information to consider
Urine testing itself has no side effects for the woman. However, some women who have a "high-risk" screening test result and who are undergoing amniocentesis or CVS are at risk of having a non-Down's syndrome non-parous baby (healthy miscarriage). Parents will need to weigh this risk when deciding whether or not to have an amniocentesis or CVS after receiving a "high risk" screening test result.

Translation notes:

Translation: Kong Hong Han. Editing: Ziganshina Lilia Evgenievna. Project coordination for translation into Russian: Cochrane Russia - Cochrane Russia (branch of the Northern Cochrane Center on the basis of Kazan Federal University). For questions related to this transfer, please contact us at: [email protected]

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Named the factors affecting the possibility of having a child with Down syndrome

Named the factors affecting the possibility of having a child with Down syndrome Down syndrome

Race and socio-economic conditions do not affect the birth of a child with Down syndrome, but the age of the mother is the main risk factor, in women by 40 . .. RIA Novosti, 12/13/2021

2019-03-21T03:38

2021-12-13T21:04

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MOSCOW, March 21 - RIA Novosti. Race and socioeconomic conditions do not affect the birth of a child with Down syndrome, but the age of the mother is the main risk factor, in women by the age of 40 the probability of having a child with Down syndrome increases by 9times compared with women 30 years old, RIA Novosti was told in the press service of the FBGNU Medical Genetic Research Center. an additional chromosome appears. In turn, Natalya Semenova, senior researcher at the scientific advisory department of the Medical Genetic Research Center, geneticist of the highest category, candidate of medical sciences, told RIA Novosti that the prevalence of Down syndrome to some extent depends on traditional and religious features of the region. "In countries where termination of pregnancy is not accepted, the prevalence is higher," she noted. In Russia, pregnant women, regardless of their age, undergo prenatal screening for the detection of Down syndrome in a child, Semenova added. As the obstetrician told RIA Novosti -gynecologist of the Central Research Institute of Epidemiology of Rospotrebnadzor Arkady Kotlyar, research is carried out at 11-12 weeks of pregnancy. A woman is given an ultrasound examination, certain points of the fetus are examined, after which the pregnant woman is tested for certain hormones, and the mathematical program calculates the probability of having a child with genetic changes. At the same time, experts clarify that this test only shows the probability of having a child with Down syndrome, but not gives an accurate answer. To date, the most effective research method is a non-invasive prenatal test - the study of fetal DNA isolated from the mother's blood, its accuracy is 97-99%, the press service of the center noted. The analysis can be carried out already from the 9th week of pregnancy, but so far only at their own expense, the press service added. At the same time, the number of children with Down syndrome has not changed after the opportunity arose identify it during early pregnancy, Semenova emphasized. At the same time, the life expectancy of people with Down syndrome has increased markedly over the past decades, mainly due to success in the surgical treatment of heart defects and gastrointestinal tract, Semenova added. But effective science cannot yet offer methods of treating the syndrome, including using genome editing, said Svetlana Smirnikhina, head of the genome editing laboratory of the FBGNU "Medical Genetic Research Center", Ph.D. which are caused by mutations in the genome, in 100% of cases leading to the disease. factor diseases, this technology is powerless,” she said. According to her, it is still impossible to cut out a whole chromosome, which contains thousands of genes, from an embryo.

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MOSCOW, March 21 - RIA Novosti. Race and socio-economic conditions do not affect the birth of a child with Down syndrome, but the age of the mother is the main risk factor, in women by the age of 40, the probability of having a child with Down syndrome increases 9 times compared to women 30 years old, RIA Novosti reported in the press service of the Federal State Scientific Institution "Medical Genetic Research Center".

Every year on March 21, the world celebrates the World Day of People with Down Syndrome, a disease resulting from a genetic anomaly in which an extra chromosome appears in the human body.

"The chance of having a baby with Down's syndrome is not determined by race and socio-economic background, but largely depends on the age of the mother. For example, the risk of having a baby with trisomy 21 in a mother of 30 is 1:1000, and the mother is 40 years old - 9:1000," the report says.

In turn, Natalya Semenova, a senior researcher at the Scientific Advisory Department of the Medical Genetic Research Center, a geneticist of the highest category, Candidate of Medical Sciences, told RIA Novosti that the prevalence of Down syndrome to some extent depends on traditional and religious characteristics region.

March 21, 2019, 02:02

International Down Syndrome Day

"In countries where termination of pregnancy is not accepted, the prevalence is higher," she noted.

In Russia, pregnant women, regardless of their age, undergo prenatal screening for Down's syndrome in their baby, Semyonova added.

According to RIA Novosti obstetrician-gynecologist of the Central Research Institute of Epidemiology of Rospotrebnadzor Arkady Kotlyar, the study is carried out at 11-12 weeks of pregnancy. A woman is given an ultrasound examination, certain points of the fetus are examined, after which the pregnant woman is tested for certain hormones, and a mathematical program calculates the probability of having a child with genetic changes.

At the same time, experts specify that this test only shows the probability of having a child with Down syndrome, but does not give an accurate answer.

To date, the most effective research method is a non-invasive prenatal test - the study of fetal DNA isolated from the mother's blood, its accuracy is 97-99%, the press service of the center noted.

Analysis can be carried out already from the 9th week of pregnancy, but so far only at your own expense, the press service added.

March 20, 2019, 16:38

Menshenina: Russia needs state support algorithms for people with Down syndromeAbout how Russia celebrates World Down Syndrome Day, what are the main problems special people in our country face and how they can be helped, said Irina Menshenina, General Director of the Love Syndrome Charitable Foundation.

At the same time, the number of children with Down syndrome has not changed after it became possible to detect it during early pregnancy, Semenova emphasized.

"In a UK study in 2011, analyzing twenty years of prenatal screening programs for Down's syndrome... showed that the prevalence of Down's syndrome among live births has not generally changed. Increased maternal age on the one hand and increased survival of children with trisomy The 21st chromosome, on the other hand, gave a compensatory effect of the use of prenatal diagnostics," she explained.

At the same time, the life expectancy of people with Down syndrome has increased markedly over the past decades, mainly due to advances in the surgical treatment of heart and gastrointestinal tract defects, Semenova added.

But science still cannot offer effective methods of treating the syndrome, including using genome editing, said Svetlana Smirnikhina, head of the genome editing laboratory at the Medical Genetic Research Center, Candidate of Medical Sciences, to RIA Novosti.

"Genome editing is effective only for the treatment of those diseases that are caused by mutations in the genome, which in 100% of cases lead to the disease.