Genetic diseases 2025, January

I am 24 years old and 2 he althy daughters. In October last year, I miscarried my son in the 5th month of pregnancy. The cause is still unknown today. There is a gene in my family ...…

My problem is keeping the pregnancy, I have had habitual miscarriages behind me. My gynecologist spread his hands, so I'm looking for the cause myself. Because my father had a problem ...…

I would like to consult my PAPP-A test results. Would it be possible for a telephone consultation or a visit?…

My fiance's parents are first cousins. What is the risk of genetic defects in our children?…

I have 2 early, spontaneous miscarriages behind me. I did a lot of research. Karyotypes are correct, when it comes to testing for thrombophilia, only the PAI gene mutation came out -...…

I am a 27-year-old woman. For 3 years I have known that I have a vitamin B12 deficiency - the result is 88 after week 80. I am regularly supplemented. There is an improvement in well-being ...…

My mother has blood type O rh-, father has blood type B rh-, son has O rh +. How is it that it works out this way? This is the first child who is 35 years old.…

If my fiancé is he althy, does it mean that our children are not exposed to genetic diseases? Even though my fiance's parents are cousins ​​p ...…

Is it possible to give birth to a child with the same defect after the birth of a child with the defect - Down syndrome (the child died) in the next pregnancy? I already have two he althy ...…

Prenatal ultrasound without abnormalities, and the Papp test result is trisomy 21 risk adjusted 1: 682. What does this mean?…

If I gave birth to three he althy children, can I have a mutation of this gene? Only in my last pregnancy I had problems (I was 29 then). It turned out that they eat ...…

We are planning a child with my husband, but we are wondering because my husband has clubfoot (shorter limbs, smaller foot), his cousin has the same. Is this a defect ...…

Three days ago I found out that my second pregnancy died (week 8). The research results so far have been good. The more shocked me during the visit when ...…

Can the body reject pregnancies, children of a specific sex? Is there any probability that I cannot give birth to a boy?…

I am 36 years old. I have been struggling with hemorrhagic cysts for several months, now also suspected of hydrocephalus. Tumor marker Ca-125 22.24, and HE4 - 94.92 ...…

My 5-month-old baby has dysmorphic features. The child has a diagonal wrinkle, almond-shaped eyes and low-set ears. Is after t ...…

I have been diagnosed with a mutation of the FV R2_4070A-G, MTHFR_1298A-C, PAI-1 4G genes in a heterozygous system. I did it because my father has thrombophilia ...…

My husband has a slightly handicapped aunt, she is the sister of his mother, my mother-in-law. Is there a risk that my husband and I may have a handicapped child ...…

I have a factor V Leiden and PAI 1 mutation. Will I be able to have a child with this defect? ​​…

I have a MTHFR 677 heterozygous gene mutation, I have one he althy 15-year-old son, but I don't know if he has the same defect as me. Should I do ...…

I can't find any complete information on the diagnosis of genetic diseases. Could you recommend me some literature on this topic? I am st ...…

How likely is it that I will have cancer if my dad has lung cancer (we are waiting for a council), my grandfather (my dad's father) died of lung cancer ...…

I have come across two different approaches to taking folic acid with a homozygous mutation in the MTHFR 1298 gene. One doctor says you should take ...…

How is it possible that no one has recognized a heart defect in my son, neither during pregnancy (come systematically to control my condition), nor after the delivery and long after? ...…

Which means an increased (54%) percentage of sperm with DNA fragmentation and the finding of 2% of sperm with second degree abnormalities (presence of <=2 small vacuoles) at ...…

The son was diagnosed with thrombophilia: Leiden factor and protein S. Does this mean that one of the parents carries the defective gene (it cannot be passed on e.g. ...…

Is it likely that a mother with a negative blood group (0 rh-), a father (ArhD-), will have a child with a positive blood group?…

My husband has a clubfoot (shorter leg, smaller foot), his cousin also has the same. Can our child also have? Is it possible to somehow investigate, c ...…

After a dead pregnancy and curettage of the uterus, is it necessary to wait some time to perform the karyotype test?…

My husband's brother suffers from retinitis pigmentosa, has imbalances and is deaf. In the husband's family, apart from his brother, no one is ...…