Lethal defects of the fetus. What does it mean? [WE EXPLAIN]

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Lethal anomalies are severe developmental disorders that lead directly or indirectly to the death of the fetus or newborn. They can be caused by genetic or non-genetic factors. They are characterized by impaired development of the fetus, which results in the impossibility of carrying a pregnancy or death shortly after birth. What do you need to know about lethal vices?

1. Lethal defects are defects in the fetus or newborn infant that result in the death of the fetus, regardless of treatment. In Poland, 2019 termination of pregnancies were performed in 1074 due to fetal malformations
2. On October 22, termination of pregnancy due to fetal defects was declared unconstitutional
3. Among the lethal defects of the fetus, we can distinguish neural tube defects, which lead, among others, to to the anencephaly and skullcap and chromosome trisomes – Patau and Edwards syndrome
4. In most cases, the treatment of newborns born with lethal malformations is abandoned, considering the commencement of treatment as persistent therapy.
5. You can find more up-to-date information on the TvoiLokony home page

Every pregnant woman and women planning to have children should feel safe and receive the best possible medical care. Purchasing a medical package for pregnant women may help.

What are lethal vices?

Lethal anomalies in the fetus or newborn are developmental disorders with uncertain or poor prognosis, which lead to spontaneous abortion, premature delivery, intrauterine death and, in the case of newborns, premature death, regardless of the treatment taken. Lethal defects also include those congenital defects that do not lead to death shortly after birth, but cause the child to suffer continuously and require palliative care in a perinatal hospice.

World reports estimate that 3,3 million children under the age of 5 die each year from serious birth defects. Until recently, in Poland, the diagnosis of lethal abnormalities in the fetus was the basis for termination of pregnancy. On October 22, the Constitutional Tribunal ruled that termination of pregnancy due to lethal defects of the fetus is inconsistent with the constitution, and thus prohibited de facto legal abortion in Poland. In 2019, 1110 official termination procedures were carried out in our country, of which 1074 due to the high probability of severe and irreversible fetal impairment or an incurable life-threatening disease.

The diagnosis of a lethal defect is preceded by a series of tests, incl. Ultrasound, echocardiography, genetic and prenatal tests.

It is worth consulting the test results not only with the attending physician. This can be done by consulting a gynecologist online – just attach the results before starting the video chat, and then discuss your doubts with your doctor.

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Examples of lethal defects in the fetus

Among the lethal defects diagnosed in a fetus or a newborn, the following are distinguished:

1. brain defects – holoprosencephaly, skullcap, anencephaly, cerebral hernias;
2. critical heart defects or no heart
3. triploidy
4. trisomy of the 18 pair of chromosomes (Edwards syndrome);
5. trisomy of the 13 pairs of chromosomes (Patau’s syndrome);
6. autosomal chromosome monosomes;
7. some bone dysplasias
8. some genodermatoses
9. Smith, Lemli and Opitz syndrome with holoprosencephaly,
10. metabolic diseases – Krabbe disease or Zellweger syndrome
11. kidney agenesis
12. syringomyelia with no bladder,
13. complex syndromes of malformations – Neu-Levox syndrome, lethal multifinci syndrome.

Patau’s syndrome (13th chromosome trisomy) is one of the rarest and most severe forms of trisomy found in live-born infants. It occurs with a frequency of 1 in 8-12 thousand births. The risk of this lethal defect in the newborn increases with the age of the mother. In most cases, fetuses with a trisomy of the 13th chromosome die while still in the uterus or are stillborn. If a newborn is born alive, the average life expectancy is around 3 years. More about this lethal defect: Patau syndrome (Patau syndrome) – chromosome 13 trisomy

Edwards syndrome (18th chromosome trisomy) occurs once in 3,5-5 births. It is a genetic disease that almost 95% leads to spontaneous abortion in the first trimester of pregnancy. In most cases, liveborn infants with this genetic defect live for no more than two months, in rare cases more than a year. See more: Edwards syndrome – chromosome 18 trisomy

In 2019, 88 termination procedures were performed due to the diagnosis of Patau’s or Edwards syndrome with coexisting somatic defects, and 60 termination procedures without comorbidities.

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The lethal defects also include neural tube defects, which are one of the causes of miscarriage in the first trimester and death of children in the first year of life. Neural tube defects are divided into defects of the brain and skull: anencephaly, skullcap, cerebral hernias, spina bifida and spinal cord and spinal canal defects: spina bifida, meningeal hernia, spina bifida, hydrocephalus and cavernosa of the spinal cord.

It is estimated that in Poland neural tube defects affect 2-3 newborns per 1000 live births. Some neural tube defects are lethal, causing the fetus to die before birth. Some newborns die shortly after birth or do not reach the teenage age.

Caring for a child with a lethal defect

Having a child with a lethal defect is a huge burden for the woman (and her partner). Doctors usually do not provide medical care to the newborn because the defects are incurable, and the withdrawal from hospitalization is explained by excessive suffering and violation of the patient’s dignity and is treated as persistent therapy. Usually, a child with a lethal defect dies in the hospital or goes to a perinatal hospice, which takes care of the newborn and his family.

If doctors and parents decide to undergo treatment, it is mainly based on supporting the child’s life – mechanical ventilation, continuous pain relief and, in some cases, surgery.

If you are pregnant, do not forget to take folate supplementation. On Medonet Market you will also find it in a version for allergy sufferers.

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