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Spontaneous abortions: understand how their causes are investigated

Spontaneous abortions: understand how their causes are investigated

Miscarriage is a terrible personal experience that unfortunately affects about 15% of clinically identified pregnancies and is one of the most common obstetric complications. Unfortunately, the reason that led to the loss of the fetus is quite difficult to determine. However, in recent years, studies have shown that genetic alterations play a key role in this complication.

Abortions are classified according to the gestation periods:

1) up to 5 weeks (pre-embryonic period);

2) between the 6th. and the 9th. week (embryonic period)

3) after 10 weeks of pregnancy (fetal period).

Sporadic loss is quite common, about 30% to 50% of all conceptions do not end in a live baby. Recurrent abortion, the consecutive loss of three or more pregnancies, occurs in about 0.5 to 3% of women attempting to have a child. This is a very high incidence and one that must be thoroughly researched from the point of view of medical genetics, especially when the maternal age factor is discarded (the younger the woman is, the greater the chance of an abortion).

Among the anxieties that accompany the frustration of an abortion, perhaps the lack of knowledge of the causes is one of the greatest, because it leads to insecurity and anxiety, factors that also complicate the next attempts to get pregnant. Several factors are associated with loss of pregnancy, sporadic or recurrent, and genetic factors are - without doubt - the most important. Studies show that nearly 70% of abortions have a chromosomal cause, depending on the woman's age.

The most common chromosomal abnormalities are the numeric ones (95%), which may be polyploidy (sets of extra chromosomes) and aneuploidies (chromosomes or less: monosomies, trisomies or polysomies). These changes occur during the division of the cells to form the sperm and egg cells and are also responsible for genetic syndromes in the case of the baby being born, such as Down syndrome, Patau's syndrome, Edwards syndrome, among others.

Genetic disorders are (60% of the cases), X chromosome monosomiasis (20%) and polyploidy (20%) are the most frequent chromosomal abnormalities in early losses. The investigation of the cause of gestational loss has great relevance in today's medical clinic, since in the vast majority of cases the couple intends to try a new pregnancy. Therefore, determining the cause of the miscarriage may allow important clinical interventions for the success of the next attempt, as well as allowing the couple to cope emotionally with the loss.

One of the possible clinical interventions for the couple that has a genetic cause determined for recurrent abortions is the recommendation of assisted fertilization procedures associated with embryonic biopsies - PGD. The embryos are analyzed with specific genetic tests and only those embryos free from genetic abnormalities will be implanted. Several clinical studies show that the chances of full term pregnancy? baby born and healthy? they grew exponentially.

The karyotype of the aborted fetus was previously examined (that is, its DNA was analyzed) and, in about 60% of the cases, there were no results that could clarify whether or not there was a genetic cause . And when some result was achieved, this level of imprecision of the answer would not guarantee a correct diagnosis. But today there are tests using NGS (Next Generation Sequencing) technology that allow you to create genetic panels that clarify the etiology of abortion with up to 99% accuracy and accuracy.For couples undergoing in vitro fertilization with PGD (pre-implantation embryo biopsy) already exists in Brazil a genetic test, also formatted in the NGS platform, that gives results in less than 16 hours? which for some couples is a strategic advantage, since it will not be necessary to freeze the embryo.

Faced with all the possibilities that science and genomic medicine have for understanding the causes of abortions and the potential for solutions that the clinic it is of fundamental importance that the couple suffering from the disappointment of an interrupted pregnancy seek a geneticist doctor to make a genetic counseling consultation. We live the age of enlightening information and genetics are able to give many answers and also hope for those who want to start a family.


Women with diabetes have weaker uterine contractions and are at higher risk for infections and bleeding. Researchers at the University of Liverpool in the United Kingdom have found that the strength of uterine contractions in pregnant women with diabetes is significantly weaker than that of women without the disease, which increases the risk of

Women with diabetes have weaker uterine contractions and are at higher risk for infections and bleeding. Researchers at the University of Liverpool in the United Kingdom have found that the strength of uterine contractions in pregnant women with diabetes is significantly weaker than that of women without the disease, which increases the risk of

The results indicate why so many pregnant women with diabetes have to face an emergency cesarean section. The next steps in the research are to find ways to reduce the risk of birth among these women, which include infections and bleeding. Diabetes in pregnancy impairs the health of the mother and baby There are women who have never had problems with blood glucose in life, and yet end up developing the so-called gestational diabetes, which is quite common and varies according to ethnicity.

(Family)

Men get less aggressive when they marry

Men get less aggressive when they marry

Married men have less aggressive and even illegal behaviors than singles, says a study by Michigan State University in the United States. According to the survey, the greater socialization of males after marriage was considered to be one of the main reasons for the decline in the number of cases of men involved in fights, automobile accidents and prison cases after marriage.

(Family)